Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.I131_W134del4

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.I131_W134del4
c.391_401del12
Surrounding Variants
1 paper
NM_147127.5
p.W134fs
c.400_401fs
1 paper
NM_147127.5
p.S133delFs
c.399delG
1 paper
NM_147127.5
p.L139V
c.415T>G
1 paper
NM_001166136.2
p.F50L
c.150T>G
1 paper
NM_147127.5
p.F140L
c.418T>C
1 paper
NM_147127.5
p.F140L
c.420T>G
1 paper
NM_147127.5
p.F140L
c.420T>A
1 paper
NM_147127.5
p.F128I
c.382T>A
1 paper
NM_147127.5
p.L127V
c.379T>G
1 paper
NM_147127.5
p.P145L
c.434C>T
2 papers
NM_001166136.2
p.I66_T67insFs
c.198_199ins5
1 paper
NM_147127.5
p.P122Q
c.365C>A
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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."