Varaico: Literature-Extracted Genetic Variants

Gene:ASH2L
Variant:p.D527H

ASH2L

71 papers

Pfam Domains

PHD_ash2p_likeaa 1–21UCSCASH2, PHD zinc finger
PHD_ash2p_likeaa 108–160UCSCASH2, PHD zinc finger
ASH2L-like_WHaa 162–269UCSCSet1/Ash2 histone methyltransferase complex subunit ASH2-like, WH
SPRYaa 420–496UCSCSPRY domain

Gene Aliases

HGNC Name

ASH2 like, histone lysine methyltransferase complex subunit

HGNC Previous Symbol

ASH2L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004674.5
p.D527H
c.1579G>C
Surrounding Variants
1 paper
NM_004674.5
p.V526L
c.1576G>C
1 paper
NM_004674.5
p.V526L
c.1576G>T
1 paper
NM_004674.5
p.T496delFs
c.1487_1488delCA
1 paper
NM_004674.5
p.A435T
c.1303G>A
1 paper
NM_004674.5
p.R417W
c.1249C>T
1 paper
NM_004674.5
p.K405N
c.1215G>C
1 paper
NM_004674.5
p.K405N
c.1215G>T
1 paper
NM_004674.5
p.I394L
c.1180A>C
2 papers
NM_001105214.2
p.I482V
c.1444A>G
1 paper
NM_004674.5
p.D588N
c.1762G>A
1 paper
NM_004674.5
p.E617K
c.1849G>A
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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."