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.R984C

c.2950C>T

Surrounding Variants

1 paper

NM_018489.3

p.R984H

c.2951G>A

1 paper

NM_018489.3

p.R973T

c.2918G>C

1 paper

NM_018489.3

p.K995N

c.2985G>T

1 paper

NM_018489.3

p.K995N

c.2985G>C

1 paper

NM_018489.3

p.K972M

c.2915A>T

1 paper

NM_018489.3

p.T971S

c.2912C>G

1 paper

NM_018489.3

p.T971S

c.2911A>T

1 paper

NM_018489.3

p.I970I

c.2910T>A

1 paper

NM_018489.3

p.K969_I970delFs

c.2905_2908del4

1 paper

NM_018489.3

p.L997_L998delFs

c.2991_2992delAC

1 paper

NM_018489.3

p.L998fs

c.2992_2993fs

1 paper

NM_018489.3

p.K968R

c.2903A>G