Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.R698*

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
2 papers
NM_147127.5
p.R698*
c.2092C>T
Surrounding Variants
1 paper
NM_147127.5
p.F697insFs
c.2089_2090insCA
4 papers
NM_147127.5
p.T699A
c.2095A>G
1 paper
NM_001166136.2
p.Q610*
c.1828C>T
1 paper
NM_001166136.2
p.V620_Y626del0
c.1858_1878del21
1 paper
NM_147127.5
p.R687H
c.2060G>A
4 papers
NM_147127.5
p.Q686insFs
c.2056_2057insC
2 papers
NM_147127.5
p.K682_H683Splc
c.2047-1G>T
1 paper
NM_147127.5
p.M714I
c.2142G>T
1 paper
NM_147127.5
p.M714I
c.2142G>C
1 paper
NM_147127.5
p.M714I
c.2142G>A
1 paper
NM_147127.5
p.E715K
c.2143G>A
2 papers
NM_147127.5
p.H717H
c.2151C>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."