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.A911T

c.2731G>A

Surrounding Variants

1 paper

NM_018489.3

p.P912T

c.2734C>A

1 paper

NM_018489.3

p.S920G

c.2758A>G

1 paper

NM_018489.3

p.K921_L922insA

c.2761_2765ins3

1 paper

NM_018489.3

p.E925*

c.2773G>T

2 papers

NM_018489.3

p.K894*

c.2680A>T

2 papers

NM_018489.3

p.P893insFs

c.2678dupC

1 paper

NM_018489.3

p.P893S

c.2677C>T

1 paper

NM_018489.3

p.R892S

c.2676G>C

1 paper

NM_018489.3

p.H929R

c.2786A>G

1 paper

NM_018489.3

p.S932N

c.2795G>A

1 paper

NM_018489.3

p.F936fs

c.2806_2807fs

1 paper

NM_018489.3

p.P885L

c.2654C>T