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.L223L

c.667C>T

Surrounding Variants

1 paper

NM_018489.3

p.T226I

c.677C>T

1 paper

NM_018489.3

p.K205T

c.614A>C

1 paper

NM_018489.3

p.K239_L240del2

c.715_719del6

1 paper

NM_018489.3

p.L204L

c.612A>G

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.L204I

c.610T>A

1 paper

NM_018489.3

p.T242delFs

c.725delG

1 paper

NM_018489.3

p.L197F

c.589C>T

1 paper

NM_018489.3

p.I254_R255delFs

c.760_763del4

1 paper

NM_018489.3

p.N190S

c.569A>G

1 paper

NM_018489.3

p.K256R

c.767A>G