Varaico: Literature-Extracted Genetic Variants

ASH1L

345 papers

RefSeq Summary

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small ...

Pfam Domains

AWSaa 2103–2141UCSCAWS domain

SETaa 2156–2261UCSCSET domain

Bromodomainaa 2451–2538UCSCBromodomain

PHD_5aa 2579–2630UCSCPhD finger domain

BAHaa 2661–2798UCSCBAH domain

Gene Aliases

HGNC Name

ASH1 like histone lysine methyltransferase

HGNC Alias Symbols

huASH1; ASH1; ASH1L1; KMT2H

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018489.3

p.V696delFs

c.2088delA

Surrounding Variants

1 paper

NM_018489.3

p.C694*

c.2082C>A

1 paper

NM_018489.3

p.R712fs

c.2134_2135fs

1 paper

NM_018489.3

p.R712delFs

c.2134delT

1 paper

NM_018489.3

p.R718Q

c.2153G>A

1 paper

NM_018489.3

p.K721*

c.2161A>T

1 paper

NM_018489.3

p.T720_K721insFs

c.2160_2161insT

1 paper

NM_018489.3

p.F672L

c.2016C>G

1 paper

NM_018489.3

p.F672L

c.2016C>A

1 paper

NM_018489.3

p.F672L

c.2014T>C

5 papers

NM_018489.3

p.A724S

c.2170G>T

1 paper

NM_018489.3

p.V669A

c.2006T>C

1 paper

NM_018489.3

p.S668T

c.2002T>A