Varaico: Literature-Extracted Genetic Variants

Gene:NCAPH
Variant:p.L493delFs

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
1 paper
NM_015341.5
p.L493delFs
c.1477delC
Surrounding Variants
1 paper
NM_015341.5
p.N513S
c.1538A>G
1 paper
NM_015341.5
p.R485R
c.1453A>C
1 paper
NM_015341.5
p.T466fs
c.1396_1397fs
1 paper
NM_015341.5
p.Q453*
c.1357C>T
1 paper
NM_015341.5
p.R450Q
c.1349G>A
1 paper
NM_015341.5
p.R446H
c.1337G>A
1 paper
NM_015341.5
p.Y428D
c.1282T>G
1 paper
NM_015341.5
p.G410W
c.1228G>T
1 paper
NM_015341.5
p.V539I
c.1615G>A
3 papers
NM_015341.5
p.V539A
c.1616T>C
1 paper
NM_015341.5
p.T558S
c.1672A>T
1 paper
NM_015341.5
p.T558S
c.1673C>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."