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.L2587F

c.7759C>T

Surrounding Variants

1 paper

NM_018489.3

p.G2586C

c.7756G>T

1 paper

NM_018489.3

p.G2586S

c.7756G>A

1 paper

NM_018489.3

p.K2589fs

c.7765_7766fs

1 paper

NM_018489.3

p.K2589insFs

c.7766_7767ins4

2 papers

NM_018489.3

p.D2590fs

c.7768_7769fs

1 paper

NM_018489.3

p.Y2588_K2589insFs

c.7764_7767dup4

3 papers

NM_018489.3

p.Y2588_D2590insFs

c.7764_7768dup5

1 paper

NM_018489.3

p.D2590fs

c.7768_7769fs

1 paper

NM_018489.3

p.M2594I

c.7782G>T

1 paper

NM_018489.3

p.M2594_I2595insFs

c.7782_7783ins4

1 paper

NM_018489.3

p.M2594I

c.7782G>C

1 paper

NM_018489.3

p.M2594I

c.7782G>A