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.S596F

c.1787C>T

Surrounding Variants

1 paper

NM_018489.3

p.S587fs

c.1759_1760fs

1 paper

NM_018489.3

p.S608N

c.1823G>A

1 paper

NM_018489.3

p.H610Y

c.1828C>T

1 paper

NM_018489.3

p.N581Y

c.1741A>T

1 paper

NM_018489.3

p.P580L

c.1739C>T

2 papers

NM_018489.3

p.S575A

c.1723T>G

1 paper

NM_018489.3

p.P571L

c.1712C>T

1 paper

NM_018489.3

p.S570N

c.1709G>A

1 paper

NM_018489.3

p.T568S

c.1703C>G

1 paper

NM_018489.3

p.T568S

c.1702A>T

1 paper

NM_018489.3

p.N565K

c.1695T>A

1 paper

NM_018489.3

p.K627insFs

c.1880_1881dupAA