Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.L307fs

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.L307fs
c.919_920fs
Surrounding Variants
1 paper
NM_147127.5
p.L307F
c.919C>T
1 paper
NM_147127.5
p.L310V
c.928C>G
3 papers
NM_147127.5
p.I304insFs
c.911_912insA
1 paper
NM_147127.5
p.F302del1
c.904_906delGAA
1 paper
NM_147127.5
p.G301delFs
c.903delC
1 paper
NM_147127.5
p.T313N
c.938C>A
1 paper
NM_147127.5
p.F302fs
c.904_905fs
3 papers
NM_147127.5
p.W314*
c.941G>A
3 papers
NM_147127.5
p.W314*
c.942G>A
1 paper
NM_001166136.2
p.A235P
c.703G>C
2 papers
NM_147127.5
p.H298delFs
c.893delT
1 paper
NM_147127.5
p.L292_H298insFs
c.876_892dup17
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."