Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.T543S

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.T543S
c.1628C>G
Surrounding Variants
1 paper
NM_147127.5
p.T543T
c.1629C>T
1 paper
NM_147127.5
p.Q544P
c.1631A>C
1 paper
NM_147127.5
p.G552fs
c.1654_1655fs
1 paper
NM_147127.5
p.E553G
c.1658A>G
4 papers
NM_147127.5
p.G552_E553delFs
c.1655_1658del4
1 paper
NM_147127.5
p.E553_L554delins
c.1657_1660delinsA
1 paper
NM_147127.5
p.L554*
c.1661T>A
1 paper
NM_147127.5
p.L554delFs
c.1661delA
1 paper
NM_147127.5
p.Q528delFs
c.1582delG
1 paper
NM_147127.5
p.M561delFs
c.1681_1682delAT
1 paper
NM_147127.5
p.L562L
c.1684C>T
1 paper
NM_147127.5
p.L562M
c.1684C>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."