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.A1802P

c.5404G>C

Surrounding Variants

1 paper

NM_018489.3

p.R1808W

c.5422C>T

1 paper

NM_018489.3

p.R1808Q

c.5423G>A

1 paper

NM_018489.3

p.Y1813F

c.5438A>T

1 paper

NM_018489.3

p.Y1813Y

c.5439C>T

1 paper

NM_018489.3

p.D1814N

c.5440G>A

1 paper

NM_018489.3

p.V1826I

c.5476G>A

1 paper

NM_018489.3

p.D1773N

c.5317G>A

9 papers

NM_018489.3

p.T1771A

c.5311A>G

6 papers

NM_018489.3

p.P1768S

c.5302C>T

1 paper

NM_018489.3

p.Q1836*

c.5506C>T

1 paper

NM_018489.3

p.D1763G

c.5288A>G

1 paper

NM_018489.3

p.D1756G

c.5267A>G