Varaico: Literature-Extracted Genetic Variants

Gene:H2AP

H2AP

11 papers

RefSeq Summary

This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in individuals with Huntington's disease (PMID: 9700202). [provided by RefSeq, Aug 2011].

Gene Aliases

HGNC Name

H2A.P histone

HGNC Previous Symbols

CXorf27; HYPM

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_012274.2
p.V32M
c.94G>A
1 paper
NM_012274.2
p.L54H
c.161T>A
1 paper
NM_012274.2
p.A72S
c.214G>T
1 paper
NM_012274.2
p.A72D
c.215C>A
1 paper
NM_012274.2
p.A98S
c.292G>T
1 paper
NM_012274.2
p.F107fs
c.319_320fs
1 paper
NM_012274.2
p.F107_D108delFs
c.321_322delTG
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."