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.




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