Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.V493I

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.V493I
c.1477G>A
Surrounding Variants
1 paper
NM_147127.5
p.V493L
c.1477G>C
1 paper
NM_147127.5
p.E494Q
c.1480G>C
2 papers
NM_147127.5
p.S491F
c.1472C>T
1 paper
NM_147127.5
p.L499delFs
c.1496delA
1 paper
NM_147127.5
p.L502R
c.1505T>G
1 paper
NM_147127.5
p.E506K
c.1516G>A
1 paper
NM_001166136.2
p.H423_E426delFs
c.1269_1278del10
1 paper
NM_147127.5
p.L514fs
c.1540_1541fs
3 papers
NM_147127.5
p.L514delFs
c.1541_1542delGA
1 paper
NM_147127.5
p.E520D
c.1560A>T
1 paper
NM_147127.5
p.E520D
c.1560A>C
1 paper
NM_147127.5
p.A523G
c.1568C>G
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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."