Varaico: Literature-Extracted Genetic Variants

Gene:NCAPH
Variant:p.G370R

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.G370R
c.1108G>A
Surrounding Variants
1 paper
NM_015341.5
p.G370R
c.1108G>C
1 paper
NM_015341.5
p.F390C
c.1169T>G
1 paper
NM_001281712.2
p.S256_W257insFs
c.768_769insT
1 paper
NM_015341.5
p.P396S
c.1186C>T
1 paper
NM_015341.5
p.V340I
c.1018G>A
1 paper
NM_015341.5
p.E334K
c.1000G>A
1 paper
NM_015341.5
p.Q323R
c.968A>G
NM_001281712.2
p.Q187R
c.560A>G
NM_001281711.2
p.Q299R
c.896A>G
NM_001281710.2
p.Q312R
c.935A>G
1 paper
NM_015341.5
p.D312G
c.935A>G
1 paper
NM_015341.5
p.A304Splc
c.911-63G>A
1 paper
NM_015341.5
p.P292insFs
c.874_875insA
1 paper
NM_015341.5
p.E287K
c.859G>A
1 paper
NM_001281711.2
p.V256_Q257insFs
c.768_769insT
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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."