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.K544delFs

c.1632delT

Surrounding Variants

2 papers

NM_018489.3

p.S545P

c.1633T>C

1 paper

NM_018489.3

p.K544fs

c.1630_1631fs

1 paper

NM_018489.3

p.S553C

c.1657A>T

3 papers

NM_018489.3

p.G535*

c.1603G>T

1 paper

NM_018489.3

p.M534I

c.1602G>T

1 paper

NM_018489.3

p.M534I

c.1602G>C

1 paper

NM_018489.3

p.M534I

c.1602G>A

1 paper

NM_018489.3

p.P556S

c.1666C>T

1 paper

NM_018489.3

p.F532_K533del2

c.1594_1598del6

1 paper

NM_018489.3

p.P558L

c.1673C>T

1 paper

NM_018489.3

p.P530Q

c.1589C>A

1 paper

NM_018489.3

p.T561A

c.1681A>G