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HP c.55G>A ;(p.V19M)
Variant ID: 16-72090109-G-A
NM_005143.3(
HP
):c.55G>A;(p.V19M)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Scientific Reports
Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q
Publication Date: 2022-12-23
Variant appearance in text: HP: 55G>A
PubMed Link:
36564540
Variant Present in the following documents:
41598_2022_26850_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Discovery and mechanism of a pH-dependent dual-binding-site switch in the interaction of a pair of protein modules.
Science Advances
Yao, Xingzhe X; Chen, Chao C; Wang, Yefei Y; Dong, Sheng S; Liu, Ya-Jun YJ; Li, Yifei Y; Cui, Zhenling Z; Gong, Weibin W; Perrett, Sarah S; Yao, Lishan L; Lamed, Raphael R; Bayer, Edward A EA; Cui, Qiu Q; Feng, Yingang Y
Publication Date: 2020-10
Variant appearance in text: HP: V19M
PubMed Link:
33097546
Variant Present in the following documents:
Main text
abd7182.pdf
View BVdb publication page
Discovery and mechanism of a pH-dependent dual-binding-site switch in the interaction of a pair of protein modules.
Science Advances
Yao, Xingzhe X; Chen, Chao C; Wang, Yefei Y; Dong, Sheng S; Liu, Ya-Jun YJ; Li, Yifei Y; Cui, Zhenling Z; Gong, Weibin W; Perrett, Sarah S; Yao, Lishan L; Lamed, Raphael R; Bayer, Edward A EA; Cui, Qiu Q; Feng, Yingang Y
Publication Date: 2020-10
Variant appearance in text: HP: V19M
PubMed Link:
33097546
Variant Present in the following documents:
Main text
abd7182.pdf
View BVdb publication page
A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.
Medicine
Yan, Zi Z; Gang, Xiaokun X; Xie, Xiaona X; Gao, Ying Y; Li, Zhuo Z; Wang, Guixia G
Publication Date: 2020-05
Variant appearance in text: HP: 55G>A
PubMed Link:
32358377
Variant Present in the following documents:
medi-99-e20000.pdf
View BVdb publication page
Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.
Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14
Variant appearance in text: HP: V19M
PubMed Link:
25394353
Variant Present in the following documents:
srep07063-s2.xls, sheet 2
View BVdb publication page
Cell-cell fusion induced by the avian reovirus membrane fusion protein is regulated by protein degradation.
Journal Of Virology
Shmulevitz, Maya M; Corcoran, Jennifer J; Salsman, Jayme J; Duncan, Roy R
Publication Date: 2004-06
Variant appearance in text: HP: V19M
PubMed Link:
15140997
Variant Present in the following documents:
Main text
View BVdb publication page
Structural and functional properties of an unusual internal fusion peptide in a nonenveloped virus membrane fusion protein.
Journal Of Virology
Shmulevitz, Maya M; Epand, Raquel F RF; Epand, Richard M RM; Duncan, Roy R
Publication Date: 2004-03
Variant appearance in text: HP: V19M
PubMed Link:
14990700
Variant Present in the following documents:
Main text
View BVdb publication page