Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.W770C

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.W770C
c.2310G>C
Surrounding Variants
1 paper
NM_147127.5
p.W770C
c.2310G>T
1 paper
NM_147127.5
p.W770*
c.2310G>A
1 paper
NM_147127.5
p.W770*
c.2309G>A
1 paper
NM_147127.5
p.L771F
c.2311C>T
1 paper
NM_147127.5
p.Q774*
c.2320C>T
2 papers
NM_001166136.2
p.R686insFs
c.2056_2057insC
1 paper
NM_147127.5
p.I776Fs
c.2327_2328delinsGFs
1 paper
NM_147127.5
p.E779*
c.2335G>T
2 papers
NM_147127.5
p.M759_T760insFs
c.2277_2278ins4
1 paper
NM_147127.5
p.K782delFs
c.2344_2345delTT
2 papers
NM_147127.5
p.M784V
c.2350A>G
1 paper
NM_147127.5
p.L751_R753del3
c.2251_2258del9
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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."