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.V2376I

c.7126G>A

Surrounding Variants

1 paper

NM_018489.3

p.T2379N

c.7136C>A

1 paper

NM_018489.3

p.R2391C

c.7171C>T

3 papers

NM_018489.3

p.R2391H

c.7172G>A

1 paper

NM_018489.3

p.C2396Y

c.7187G>A

6 papers

NM_018489.3

p.R2397*

c.7189C>T

1 paper

NM_018489.3

p.R2397Q

c.7190G>A

1 paper

NM_018489.3

p.R2352Splc

c.7056-1G>A

1 paper

NM_018489.3

p.G2400A

c.7199G>C

1 paper

NM_018489.3

p.D2405insFs

c.7213_7214ins4

2 papers

NM_018489.3

p.R2418*

c.7252C>T

4 papers

NM_018489.3

p.R2421*

c.7261C>T

1 paper

NM_018489.3

p.R2423*

c.7267A>T