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.F1287S

c.3860T>C

Surrounding Variants

1 paper

NM_018489.3

p.S1296N

c.3887G>A

1 paper

NM_018489.3

p.R1297H

c.3890G>A

1 paper

NM_018489.3

p.Y1276delFs

c.3828delA

1 paper

NM_018489.3

p.Y1276fs

c.3826_3827fs

1 paper

NM_018489.3

p.L1298R

c.3893T>G

1 paper

NM_018489.3

p.R1302W

c.3904C>T

1 paper

NM_018489.3

p.R1302P

c.3905G>C

1 paper

NM_018489.3

p.R1302Q

c.3905G>A

3 papers

NM_018489.3

p.R1272W

c.3814C>T

1 paper

NM_018489.3

p.K1271I

c.3812A>T

1 paper

NM_018489.3

p.R1270Q

c.3809G>A

1 paper

NM_018489.3

p.R1270*

c.3808C>T