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

2 papers

NM_018489.3

p.K1222_R1223delFs

c.3664_3667del4

Surrounding Variants

2 papers

NM_018489.3

p.K1222fs

c.3664_3665fs

1 paper

NM_018489.3

p.K1222insFs

c.3665dupA

4 papers

NM_018489.3

p.K1222delFs

c.3665delT

1 paper

NM_018489.3

p.K1222fs

c.3664_3665fs

1 paper

NM_018489.3

p.K1222*

c.3664A>T

1 paper

NM_018489.3

p.Q1220P

c.3659A>C

1 paper

NM_018489.3

p.E1215D

c.3645G>T

1 paper

NM_018489.3

p.E1215D

c.3645G>C

5 papers

NM_018489.3

p.P1235Fs

c.3704_3705delinsCFs

2 papers

NM_018489.3

p.P1235delFs

c.3704_3705delAG

3 papers

NM_018489.3

p.E1236fs

c.3706_3707fs

1 paper

NM_018489.3

p.N1208K

c.3624C>G