Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.A1038V

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.A1038V
c.3113C>T
Surrounding Variants
1 paper
NM_147127.5
p.L1028_Q1034del7
c.3082_3101del21
1 paper
NM_147127.5
p.Q1034*
c.3100C>T
3 papers
NM_147127.5
p.A1045V
c.3134C>T
1 paper
NM_147127.5
p.E1029D
c.3087G>T
1 paper
NM_147127.5
p.E1029D
c.3087G>C
1 paper
NM_147127.5
p.W1047*
c.3140G>A
1 paper
NM_147127.5
p.W1047*
c.3141G>A
1 paper
NM_147127.5
p.L1021F
c.3061C>T
1 paper
NM_147127.5
p.E1060K
c.3178G>A
1 paper
NM_147127.5
p.L1074L
c.3220C>T
1 paper
NM_147127.5
p.L1078P
c.3233T>C
1 paper
NM_001166136.2
p.E1006V
c.3017A>T
NM_147127.5
p.E1086V
c.3257A>T
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