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

2 papers

NM_018489.3

p.R1535C

c.4603C>T

Surrounding Variants

1 paper

NM_018489.3

p.R1535L

c.4604G>T

3 papers

NM_018489.3

p.R1535H

c.4604G>A

1 paper

NM_018489.3

p.H1534R

c.4601A>G

1 paper

NM_018489.3

p.E1532E

c.4596A>G

1 paper

NM_018489.3

p.H1530L

c.4589A>T

1 paper

NM_018489.3

p.Y1528H

c.4582T>C

2 papers

NM_018489.3

p.R1527Q

c.4580G>A

2 papers

NM_018489.3

p.R1527*

c.4579C>T

4 papers

NM_018489.3

p.K1547E

c.4639A>G

1 paper

NM_018489.3

p.G1520R

c.4558G>C

1 paper

NM_018489.3

p.G1520R

c.4558G>A

1 paper

NM_018489.3

p.N1551fs

c.4651_4652fs