Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.A719P

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.A719P
c.2155G>C
Surrounding Variants
2 papers
NM_147127.5
p.H717H
c.2151C>T
1 paper
NM_001166136.2
p.T640delFs
c.1918delT
1 paper
NM_147127.5
p.L721fs
c.2161_2162fs
2 papers
NM_147127.5
p.L721delFs
c.2161delG
1 paper
NM_147127.5
p.L721fs
c.2161_2162fs
1 paper
NM_147127.5
p.E715K
c.2143G>A
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.R727R
c.2181T>A
1 paper
NM_001166136.2
p.V620_Y626del0
c.1858_1878del21
1 paper
NM_147127.5
p.A732T
c.2194G>A
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