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.S1003*

c.3008C>G

Surrounding Variants

2 papers

NM_018489.3

p.S1003*

c.3008C>A

1 paper

NM_018489.3

p.L998fs

c.2992_2993fs

1 paper

NM_018489.3

p.L997_L998delFs

c.2991_2992delAC

1 paper

NM_018489.3

p.K995N

c.2985G>T

1 paper

NM_018489.3

p.K995N

c.2985G>C

5 papers

NM_018489.3

p.K1011delFs

c.3033delT

2 papers

NM_018489.3

p.V1014fs

c.3040_3041fs

1 paper

NM_018489.3

p.L1002_K1013del12

c.3004_3038del36

1 paper

NM_018489.3

p.R984H

c.2951G>A

1 paper

NM_018489.3

p.R984C

c.2950C>T

1 paper

NM_018489.3

p.S1023insFs

c.3067dupT

1 paper

NM_018489.3

p.R973T

c.2918G>C