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.F1872L

c.5614T>C

Surrounding Variants

1 paper

NM_018489.3

p.F1872L

c.5616T>G

1 paper

NM_018489.3

p.F1872L

c.5616T>A

1 paper

NM_018489.3

p.D1880D

c.5640C>T

1 paper

NM_018489.3

p.V1862L

c.5584G>T

1 paper

NM_018489.3

p.V1862L

c.5584G>C

1 paper

NM_018489.3

p.V1862I

c.5584G>A

1 paper

NM_018489.3

p.A1860A

c.5580T>C

1 paper

NM_018489.3

p.R1854W

c.5560C>T

1 paper

NM_018489.3

p.P1853L

c.5558C>T

1 paper

NM_018489.3

p.R1852Q

c.5555G>A

1 paper

NM_018489.3

p.G1851V

c.5552G>T

1 paper

NM_018489.3

p.R1849M

c.5546G>T