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

2 papers

NM_018489.3

p.K1348R

c.4043A>G

Surrounding Variants

1 paper

NM_018489.3

p.K1348N

c.4044G>T

1 paper

NM_018489.3

p.K1348N

c.4044G>C

5 papers

NM_018489.3

p.K1347_K1348delFs

c.4039_4043del5

1 paper

NM_018489.3

p.K1347fs

c.4039_4040fs

1 paper

NM_018489.3

p.K1347fs

c.4039_4040fs

1 paper

NM_018489.3

p.L1346V

c.4036T>G

1 paper

NM_018489.3

p.P1344R

c.4031C>G

2 papers

NM_018489.3

p.R1342Q

c.4025G>A

2 papers

NM_018489.3

p.R1342*

c.4024C>T

2 papers

NM_018489.3

p.M1360V

c.4078A>G

1 paper

NM_018489.3

p.T1329T

c.3987A>G

1 paper

NM_018489.3

p.S1368G

c.4102A>G