Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.V890M

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.V890M
c.2668G>A
Surrounding Variants
1 paper
NM_147127.5
p.E886*
c.2656G>T
1 paper
NM_147127.5
p.R885delFs
c.2653_2654delCG
1 paper
NM_147127.5
p.R885Q
c.2654G>A
8 papers
NM_147127.5
p.R885*
c.2653C>T
3 papers
NM_147127.5
p.W884*
c.2652G>A
3 papers
NM_147127.5
p.W884*
c.2651G>A
1 paper
NM_147127.5
p.V896V
c.2688G>C
1 paper
NM_147127.5
p.A883V
c.2648C>T
1 paper
NM_147127.5
p.A883Fs
c.2647delinsTGFs
1 paper
NM_147127.5
p.Q881H
c.2643G>T
1 paper
NM_147127.5
p.Q881H
c.2643G>C
1 paper
NM_147127.5
p.P899Fs
c.2697delinsCTFs
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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."