Varaico: Literature-Extracted Genetic Variants

Gene:NCAPH
Variant:p.E675D

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.E675D
c.2025A>T
Surrounding Variants
1 paper
NM_015341.5
p.E675D
c.2025A>C
1 paper
NM_015341.5
p.T691P
c.2071A>C
1 paper
NM_015341.5
p.S697Splc
c.2091-56C>T
1 paper
NM_015341.5
p.Q704K
c.2110C>A
1 paper
NM_001281712.2
p.G481G
c.1443G>A
1 paper
NM_015341.5
p.V580M
c.1738G>A
1 paper
NM_015341.5
p.D734E
c.2202T>A
1 paper
NM_015341.5
p.D734E
c.2202T>G
1 paper
NM_015341.5
p.Q566_A567Splc
c.1698+7G>T
1 paper
NM_015341.5
p.T558S
c.1673C>G
1 paper
NM_015341.5
p.T558S
c.1672A>T
3 papers
NM_015341.5
p.V539A
c.1616T>C
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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."