Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.E794fs

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.E794fs
c.2380_2381fs
Surrounding Variants
1 paper
NM_147127.5
p.E792*
c.2374G>T
1 paper
NM_147127.5
p.A786_Q790delFs
c.2357_2370del14
3 papers
NM_147127.5
p.E789*
c.2365G>T
1 paper
NM_147127.5
p.D799H
c.2395G>C
1 paper
NM_147127.5
p.A788V
c.2363C>T
1 paper
NM_147127.5
p.Q800Q
c.2400G>A
1 paper
NM_147127.5
p.R787Q
c.2360G>A
1 paper
NM_147127.5
p.V803Fs
c.2407delinsTGFs
2 papers
NM_147127.5
p.M784V
c.2350A>G
1 paper
NM_147127.5
p.K782delFs
c.2344_2345delTT
1 paper
NM_147127.5
p.R807S
c.2421G>T
1 paper
NM_147127.5
p.R807S
c.2421G>C
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."