Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.L1265fs

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.L1265fs
c.3793_3794fs
Surrounding Variants
8 papers
NM_147127.5
p.L1265delFs
c.3793delG
4 papers
NM_147127.5
p.L1266*
c.3797T>G
4 papers
NM_147127.5
p.L1266*
c.3797T>A
2 papers
NM_147127.5
p.G1269*
c.3805G>T
1 paper
NM_001166136.2
p.V1178E
c.3533T>A
1 paper
NM_147127.5
p.K1279E
c.3835A>G
1 paper
NM_147127.5
p.G1269_P1278del10
c.3805_3833del30
1 paper
NM_147127.5
p.E1251*
c.3751G>T
1 paper
NM_147127.5
p.P1248L
c.3743C>T
2 papers
NM_147127.5
p.L1244insFs
c.3731dupT
1 paper
NM_147127.5
p.K1293E
c.3877A>G
1 paper
NM_147127.5
p.K1293del1
c.3877_3878delCTT
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