Varaico: Literature-Extracted Genetic Variants

Gene:NCAPH
Variant:p.V539A

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
3 papers
NM_015341.5
p.V539A
c.1616T>C
Surrounding Variants
1 paper
NM_015341.5
p.V539I
c.1615G>A
1 paper
NM_015341.5
p.T558S
c.1672A>T
1 paper
NM_015341.5
p.T558S
c.1673C>G
1 paper
NM_015341.5
p.Q566_A567Splc
c.1698+7G>T
1 paper
NM_015341.5
p.V580M
c.1738G>A
1 paper
NM_001281712.2
p.G481G
c.1443G>A
1 paper
NM_015341.5
p.N513S
c.1538A>G
1 paper
NM_015341.5
p.L493delFs
c.1477delC
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.E675D
c.2025A>C
1 paper
NM_015341.5
p.E675D
c.2025A>T
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