Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.R335W

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.R335W
c.1003C>T
Surrounding Variants
1 paper
NM_147127.5
p.H334N
c.1000C>A
5 papers
NM_147127.5
p.K327delFs
c.981delC
2 papers
NM_147127.5
p.G328*
c.982G>T
4 papers
NM_147127.5
p.K327fs
c.979_980fs
2 papers
NM_147127.5
p.R322C
c.964C>T
1 paper
NM_147127.5
p.L319F
c.955C>T
1 paper
NM_147127.5
p.F318Y
c.953T>A
1 paper
NM_001166136.2
p.A235P
c.703G>C
3 papers
NM_147127.5
p.W314*
c.942G>A
3 papers
NM_147127.5
p.W314*
c.941G>A
1 paper
NM_147127.5
p.T313N
c.938C>A
1 paper
NM_147127.5
p.L310V
c.928C>G
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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."