Varaico: Literature-Extracted Genetic Variants

SUV39H1

109 papers

RefSeq Summary

This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 ...

Pfam Domains

Chromoaa 43–92UCSCChromo (CHRromatin Organisation MOdifier) domain

Pre-SETaa 137–235UCSCPre-SET motif

SETaa 255–366UCSCSET domain

Gene Aliases

HGNC Name

SUV39H1 histone lysine methyltransferase

HGNC Alias Symbol

KMT1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003173.4

p.V179V

c.537G>A

Surrounding Variants

1 paper

NM_003173.4

p.N175S

c.524A>G

1 paper

NM_003173.4

p.C195W

c.585C>G

1 paper

NM_003173.4

p.V161M

c.481G>A

1 paper

NM_003173.4

p.A159V

c.476C>T

1 paper

NM_003173.4

p.R158Q

c.473G>A

1 paper

NM_003173.4

p.L153V

c.457C>G

1 paper

NM_003173.4

p.R144H

c.431G>A

1 paper

NM_003173.4

p.H141Y

c.421C>T

1 paper

NM_001282166.2

p.R150C

c.448C>T

1 paper

NM_003173.4

p.K138K

c.414G>A

1 paper

NM_003173.4

p.E221K

c.661G>A

1 paper

NM_003173.4

p.R227insFs

c.679_680insAG