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.A851S

c.2551G>T

Surrounding Variants

1 paper

NM_018489.3

p.R845delFs

c.2533delT

1 paper

NM_018489.3

p.P843S

c.2527C>T

1 paper

NM_018489.3

p.E864*

c.2590G>T

1 paper

NM_018489.3

p.E864E

c.2592A>G

1 paper

NM_018489.3

p.S833T

c.2497T>A

1 paper

NM_018489.3

p.P870Q

c.2609C>A

1 paper

NM_018489.3

p.K827*

c.2479A>T

1 paper

NM_018489.3

p.S876F

c.2627C>T

1 paper

NM_018489.3

p.K878R

c.2633A>G

1 paper

NM_018489.3

p.D818A

c.2453A>C

1 paper

NM_018489.3

p.S817N

c.2450G>A

1 paper

NM_018489.3

p.P885L

c.2654C>T