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MID1 c.1877T>C ;(p.L626P)
Variant ID: X-10417535-A-G
NM_000381.3(
MID1
):c.1877T>C;(p.L626P)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.
Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07
Variant appearance in text: MID1: 1877T>C; Leu626Pro
PubMed Link:
32832622
Variant Present in the following documents:
aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page
Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.
Molecular Genetics & Genomic Medicine
Li, Bijun B; Zhou, Tianhong T; Zou, Yi Y
Publication Date: 2016-01
Variant appearance in text: MID1: 1877T>C; Leu626Pro
PubMed Link:
26788540
Variant Present in the following documents:
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs28934611
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: MID1: L626P
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Structural and functional insights into the B30.2/SPRY domain.
The Embo Journal
Woo, Jae-Sung JS; Imm, Joon-Hyuk JH; Min, Chang-Ki CK; Kim, Kyung-Jin KJ; Cha, Sun-Shin SS; Oh, Byung-Ha BH
Publication Date: 2006-03-22
Variant appearance in text: MID1: L626P
PubMed Link:
16498413
Variant Present in the following documents:
Main text
View BVdb publication page