Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.R399*

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
20 papers
NM_147127.5
p.R399*
c.1195C>T
Surrounding Variants
1 paper
NM_147127.5
p.D394E
c.1182T>A
1 paper
NM_147127.5
p.D405N
c.1213G>A
1 paper
NM_147127.5
p.D392N
c.1174G>A
1 paper
NM_147127.5
p.I406delFs
c.1217delA
1 paper
NM_147127.5
p.L410M
c.1228C>A
1 paper
NM_147127.5
p.I385delFs
c.1155delA
1 paper
NM_147127.5
p.S417I
c.1250G>T
1 paper
NM_147127.5
p.H419Q
c.1257C>G
1 paper
NM_147127.5
p.H419Q
c.1257C>A
1 paper
NM_001166136.2
p.L340F
c.1018C>T
1 paper
NM_147127.5
p.Q423_R426delFs
c.1269_1278del10
2 papers
NM_147127.5
p.Q444*
c.1330C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."