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.D1194E

c.3582T>A

Surrounding Variants

1 paper

NM_018489.3

p.D1194E

c.3582T>G

1 paper

NM_018489.3

p.P1198T

c.3592C>A

2 papers

NM_018489.3

p.E1190*

c.3568G>T

2 papers

NM_018489.3

p.S1189insFs

c.3567dupT

1 paper

NM_018489.3

p.P1185S

c.3553C>T

2 papers

NM_018489.3

p.P1185A

c.3553C>G

1 paper

NM_018489.3

p.T1205R

c.3614C>G

1 paper

NM_018489.3

p.N1208K

c.3624C>G

1 paper

NM_018489.3

p.N1208K

c.3624C>A

1 paper

NM_018489.3

p.E1215D

c.3645G>T

1 paper

NM_018489.3

p.E1215D

c.3645G>C

2 papers

NM_018489.3

p.S1172L

c.3515C>T