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.I2133L

c.6397A>T

Surrounding Variants

1 paper

NM_018489.3

p.I2133L

c.6397A>C

1 paper

NM_018489.3

p.R2132S

c.6396G>T

1 paper

NM_018489.3

p.R2132S

c.6396G>C

1 paper

NM_018489.3

p.C2128Y

c.6383G>A

1 paper

NM_018489.3

p.P2123L

c.6368C>T

8 papers

NM_018489.3

p.E2143*

c.6427G>T

1 paper

NM_018489.3

p.R2144Q

c.6431G>A

1 paper

NM_018489.3

p.R2146*

c.6436C>T

1 paper

NM_018489.3

p.A2147V

c.6440C>T

2 papers

NM_018489.3

p.S2118F

c.6353C>T

4 papers

NM_018489.3

p.E2148*

c.6442G>T

1 paper

NM_018489.3

p.E2149fs

c.6445_6446fs