Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.E457D

EVC2

291 papers

RefSeq Summary

This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-v...

Pfam Domains

EVC2_likeaa 244–749UCSCEllis van Creveld protein 2 like protein

Gene Aliases

HGNC Name

EvC ciliary complex subunit 2

HGNC Alias Symbol

LBN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_147127.5
p.E457D
c.1371A>T
Surrounding Variants
1 paper
NM_147127.5
p.E457D
c.1371A>C
1 paper
NM_001166136.2
p.C378Y
c.1133G>A
NM_147127.5
p.C458Y
c.1373G>A
2 papers
NM_147127.5
p.T455R
c.1364C>G
1 paper
NM_147127.5
p.T462_R463delFs
c.1386_1387delTT
1 paper
NM_147127.5
p.M466insFs
c.1397_1398insC
1 paper
NM_147127.5
p.R449W
c.1345C>T
1 paper
NM_147127.5
p.D448_R449insFs
c.1344_1345insC
1 paper
NM_147127.5
p.D448G
c.1343A>G
1 paper
NM_147127.5
p.Y447Y
c.1341C>T
1 paper
NM_147127.5
p.Y447*
c.1341C>G
1 paper
NM_147127.5
p.Y447*
c.1341C>A
2 papers
NM_147127.5
p.Q444*
c.1330C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."