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.N171K

c.513C>A

Surrounding Variants

1 paper

NM_018489.3

p.N171K

c.513C>G

1 paper

NM_018489.3

p.L178delFs

c.532_533delAG

2 papers

NM_018489.3

p.R164H

c.491G>A

1 paper

NM_018489.3

p.D151_E156del0

c.452_466del15

1 paper

NM_018489.3

p.D187E

c.561T>A

1 paper

NM_018489.3

p.N190S

c.569A>G

1 paper

NM_018489.3

p.L197F

c.589C>T

1 paper

NM_018489.3

p.L204I

c.610T>A

1 paper

NM_018489.3

p.L204*

c.611T>G

1 paper

NM_018489.3

p.L204*

c.611T>A

1 paper

NM_018489.3

p.L204L

c.612A>G

1 paper

NM_018489.3

p.K205T

c.614A>C