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.L333L

c.997C>T

Surrounding Variants

1 paper

NM_018489.3

p.T330A

c.988A>G

1 paper

NM_018489.3

p.L334_S338del0

c.1002_1013del12

1 paper

NM_018489.3

p.I344V

c.1030A>G

1 paper

NM_018489.3

p.L321V

c.961T>G

1 paper

NM_018489.3

p.N320fs

c.958_959fs

1 paper

NM_018489.3

p.N320insFs

c.959_960ins7

1 paper

NM_018489.3

p.G349V

c.1046G>T

1 paper

NM_018489.3

p.V351L

c.1051G>T

1 paper

NM_018489.3

p.V351L

c.1051G>C

1 paper

NM_018489.3

p.E354Q

c.1060G>C

1 paper

NM_018489.3

p.G311V

c.932G>T

1 paper

NM_018489.3

p.G356D

c.1067G>A