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.E479D

c.1437A>T

Surrounding Variants

1 paper

NM_018489.3

p.K480E

c.1438A>G

1 paper

NM_018489.3

p.S476I

c.1427G>T

2 papers

NM_018489.3

p.R484*

c.1450C>T

2 papers

NM_018489.3

p.K474*

c.1420A>T

1 paper

NM_018489.3

p.Q472H

c.1416G>T

1 paper

NM_018489.3

p.Q472H

c.1416G>C

1 paper

NM_018489.3

p.R471W

c.1411C>T

1 paper

NM_018489.3

p.L452_E466del15

c.1354_1397del45

1 paper

NM_018489.3

p.N496I

c.1487A>T

1 paper

NM_018489.3

p.S505N

c.1514G>A

1 paper

NM_018489.3

p.S453F

c.1358C>T

1 paper

NM_018489.3

p.F506delFs

c.1516_1517delAA