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.C527R

c.1579T>C

Surrounding Variants

1 paper

NM_018489.3

p.V525V

c.1575A>G

1 paper

NM_018489.3

p.P530Q

c.1589C>A

1 paper

NM_018489.3

p.E520G

c.1559A>G

1 paper

NM_018489.3

p.H519_E520delFs

c.1557_1558delCA

1 paper

NM_018489.3

p.F532_K533del2

c.1594_1598del6

1 paper

NM_018489.3

p.M534I

c.1602G>T

1 paper

NM_018489.3

p.M534I

c.1602G>C

1 paper

NM_018489.3

p.M534I

c.1602G>A

3 papers

NM_018489.3

p.G535*

c.1603G>T

1 paper

NM_018489.3

p.S513F

c.1538C>T

1 paper

NM_018489.3

p.K544fs

c.1630_1631fs

2 papers

NM_018489.3

p.S545P

c.1633T>C