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.R54*

c.160C>T

Surrounding Variants

1 paper

NM_018489.3

p.E59G

c.176A>G

1 paper

NM_018489.3

p.D64fs

c.190_191fs

1 paper

NM_018489.3

p.K34N

c.102G>T

1 paper

NM_018489.3

p.K34N

c.102G>C

5 papers

NM_018489.3

p.S74L

c.221C>T

1 paper

NM_018489.3

p.S33G

c.97A>G

1 paper

NM_018489.3

p.E77*

c.229G>T

1 paper

NM_018489.3

p.E77K

c.229G>A

1 paper

NM_018489.3

p.G29delFs

c.86delC

1 paper

NM_018489.3

p.G29fs

c.85_86fs

1 paper

NM_018489.3

p.S81*

c.242C>G

1 paper

NM_018489.3

p.F80delFs

c.239_240delAA