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.K97fs

c.289_290fs

Surrounding Variants

1 paper

NM_018489.3

p.K98K

c.294A>G

1 paper

NM_018489.3

p.P100S

c.298C>T

1 paper

NM_018489.3

p.A93G

c.278C>G

1 paper

NM_018489.3

p.I89T

c.266T>C

1 paper

NM_018489.3

p.P110S

c.328C>T

1 paper

NM_018489.3

p.P110P

c.330T>A

1 paper

NM_018489.3

p.A111D

c.332C>A

1 paper

NM_018489.3

p.S81*

c.242C>G

1 paper

NM_018489.3

p.F80delFs

c.239_240delAA

1 paper

NM_018489.3

p.E77*

c.229G>T

1 paper

NM_018489.3

p.E77K

c.229G>A

5 papers

NM_018489.3

p.S74L

c.221C>T