Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.Q528delFs

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.Q528delFs
c.1582delG
Surrounding Variants
1 paper
NM_147127.5
p.A523G
c.1568C>G
1 paper
NM_147127.5
p.E520D
c.1560A>T
1 paper
NM_147127.5
p.E520D
c.1560A>C
3 papers
NM_147127.5
p.L514delFs
c.1541_1542delGA
1 paper
NM_147127.5
p.L514fs
c.1540_1541fs
1 paper
NM_147127.5
p.T543S
c.1628C>G
1 paper
NM_147127.5
p.T543T
c.1629C>T
1 paper
NM_147127.5
p.Q544P
c.1631A>C
1 paper
NM_001166136.2
p.H423_E426delFs
c.1269_1278del10
1 paper
NM_147127.5
p.E506K
c.1516G>A
1 paper
NM_147127.5
p.G552fs
c.1654_1655fs
1 paper
NM_147127.5
p.E553G
c.1658A>G
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