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.N1907K

c.5721C>G

Surrounding Variants

1 paper

NM_018489.3

p.N1907K

c.5721C>A

1 paper

NM_018489.3

p.L1906_P1908del3

c.5716_5723del9

1 paper

NM_018489.3

p.H1910P

c.5729A>C

1 paper

NM_018489.3

p.S1903R

c.5709T>G

1 paper

NM_018489.3

p.S1903R

c.5709T>A

1 paper

NM_018489.3

p.S1903R

c.5707A>C

1 paper

NM_018489.3

p.K1915R

c.5744A>G

1 paper

NM_018489.3

p.A1899T

c.5695G>A

1 paper

NM_018489.3

p.D1880D

c.5640C>T

1 paper

NM_018489.3

p.Q1938E

c.5812C>G

1 paper

NM_018489.3

p.F1872L

c.5616T>G

1 paper

NM_018489.3

p.F1872L

c.5616T>A