Varaico: Literature-Extracted Genetic Variants

Gene:NCAPH
Variant:p.R221G

NCAPH

60 papers

RefSeq Summary

This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. Th...

Pfam Domains

Cnd2aa 30–739UCSCCondensin complex subunit 2

Gene Aliases

HGNC Name

non-SMC condensin I complex subunit H

HGNC Previous Symbol

BRRN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015341.5
p.R221G
c.661A>G
Surrounding Variants
1 paper
NM_015341.5
p.P214insFs
c.642dupA
1 paper
NM_015341.5
p.K213_P214delins
c.639_640delinsTT
1 paper
NM_015341.5
p.L180L
c.540T>A
1 paper
NM_015341.5
p.A174T
c.520G>A
1 paper
NM_015341.5
p.A174S
c.520G>T
1 paper
NM_015341.5
p.H173R
c.518A>G
1 paper
NM_015341.5
p.V172A
c.515T>C
1 paper
NM_015341.5
p.S96P
c.286T>C
1 paper
NM_015341.5
p.S87P
c.259T>C
1 paper
NM_015341.5
p.L65Q
c.194T>A
1 paper
NM_015341.5
p.N58K
c.174T>A
1 paper
NM_015341.5
p.P47P
c.141T>G
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."