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

1–12 of 632 variants

9 papers

NM_018489.3

p.T1771A

c.5311A>G

8 papers

NM_018489.3

p.E2143*

c.6427G>T

7 papers

NM_018489.3

p.R2630T

c.7889G>C

6 papers

NM_018489.3

p.P1768S

c.5302C>T

6 papers

NM_018489.3

p.R2397*

c.7189C>T

5 papers

NM_018489.3

p.S74L

c.221C>T

5 papers

NM_018489.3

p.A724S

c.2170G>T

5 papers

NM_018489.3

p.K1011delFs

c.3033delT

5 papers

NM_018489.3

p.P1235Fs

c.3704_3705delinsCFs

5 papers

NM_018489.3

p.K1347_K1348delFs

c.4039_4043del5

5 papers

NM_018489.3

p.R1516C

c.4546C>T

5 papers

NM_018489.3

p.F1634_S1635delFs

c.4902_4903delAA