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SREBF2 c.1867G>A ;(p.V623M)
Variant ID: 22-42276825-G-A
NM_004599.3(
SREBF2
):c.1867G>A;(p.V623M)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.
Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16
Variant appearance in text: SREBF2: 1867G>A; V623M
PubMed Link:
36117989
Variant Present in the following documents:
mmc4.xlsx, sheet 1
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: rs2229440
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: SREBF2: V623M
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page
Sequence diversity in genes of lipid metabolism.
Genome Research
Garcia, C K CK; Mues, G G; Liao, Y Y; Hyatt, T T; Patil, N N; Cohen, J C JC; Hobbs, H H HH
Publication Date: 2001-06
Variant appearance in text: SREBF2: V623M
PubMed Link:
11381031
Variant Present in the following documents:
Main text
View BVdb publication page