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.S1565R

c.4695T>A

Surrounding Variants

1 paper

NM_018489.3

p.S1565R

c.4695T>G

1 paper

NM_018489.3

p.S1565R

c.4693A>C

1 paper

NM_018489.3

p.R1559Q

c.4676G>A

1 paper

NM_018489.3

p.V1557_H1558del2

c.4669_4673del6

1 paper

NM_018489.3

p.Q1572R

c.4715A>G

1 paper

NM_018489.3

p.W1556R

c.4666T>C

1 paper

NM_018489.3

p.W1556R

c.4666T>A

1 paper

NM_018489.3

p.R1552_E1553delFs

c.4656_4659del4

2 papers

NM_018489.3

p.N1551_R1552delFs

c.4651_4654del4

1 paper

NM_018489.3

p.N1551fs

c.4651_4652fs

1 paper

NM_018489.3

p.S1582R

c.4744A>C

1 paper

NM_018489.3

p.S1582R

c.4746T>G