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.I764T

c.2291T>C

Surrounding Variants

1 paper

NM_018489.3

p.F760_N763del4

c.2278_2288del12

1 paper

NM_018489.3

p.P767_S768del2

c.2299_2303del6

1 paper

NM_018489.3

p.E756D

c.2268G>T

1 paper

NM_018489.3

p.E756D

c.2268G>C

1 paper

NM_018489.3

p.N752delFs

c.2255delT

1 paper

NM_018489.3

p.S746*

c.2237C>G

1 paper

NM_018489.3

p.S746*

c.2237C>A

3 papers

NM_018489.3

p.V745I

c.2233G>A

1 paper

NM_018489.3

p.L734V

c.2200C>G

1 paper

NM_018489.3

p.L734I

c.2200C>A

1 paper

NM_018489.3

p.K798R

c.2393A>G

5 papers

NM_018489.3

p.A724S

c.2170G>T