Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.S270L

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.S270L
c.809C>T
Surrounding Variants
1 paper
NM_147127.5
p.S270*
c.809C>A
2 papers
NM_147127.5
p.A263D
c.788C>A
1 paper
NM_147127.5
p.E257*
c.769G>T
1 paper
NM_147127.5
p.G251del1
c.751_753delTCC
4 papers
NM_147127.5
p.Q249*
c.745C>T
1 paper
NM_147127.5
p.A246D
c.737C>A
2 papers
NM_147127.5
p.Y244*
c.732C>G
2 papers
NM_147127.5
p.Y244*
c.732C>A
1 paper
NM_147127.5
p.D238N
c.712G>A
1 paper
NM_147127.5
p.V236A
c.707T>C
1 paper
NM_147127.5
p.V236Splc
c.707-1G>C
5 papers
NM_147127.5
p.V236Splc
c.707-2A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."