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

5 papers

NM_018489.3

p.F1634_S1635delFs

c.4902_4903delAA

Surrounding Variants

2 papers

NM_018489.3

p.S1635fs

c.4903_4904fs

2 papers

NM_018489.3

p.S1635fs

c.4903_4904fs

1 paper

NM_018489.3

p.F1634fs

c.4900_4901fs

1 paper

NM_018489.3

p.F1634S

c.4901T>C

1 paper

NM_018489.3

p.Q1637*

c.4909C>T

1 paper

NM_018489.3

p.R1643W

c.4927C>T

1 paper

NM_018489.3

p.R1624Q

c.4871G>A

3 papers

NM_018489.3

p.R1624W

c.4870C>T

1 paper

NM_018489.3

p.R1624G

c.4870C>G

1 paper

NM_018489.3

p.S1617*

c.4850C>G

1 paper

NM_018489.3

p.S1617*

c.4850C>A

4 papers

NM_018489.3

p.E1654K

c.4960G>A