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

1–12 of 38 variants

3 papers

NM_003173.4

p.K27R

c.80A>G

2 papers

NM_003173.4

p.K27M

c.80A>T

1 paper

NM_003173.4

p.M1_N4del0

c.1_12del12

1 paper

NM_003173.4

p.K6R

c.17A>G

1 paper

NM_003173.4

p.C11S

c.31T>A

1 paper

NM_003173.4

p.R24H

c.71G>A

1 paper

NM_003173.4

p.L28F

c.82C>T

1 paper

NM_003173.4

p.G34R

c.100G>C

1 paper

NM_003173.4

p.G34V

c.101G>T

1 paper

NM_003173.4

p.K37R

c.110A>G

1 paper

NM_003173.4

p.I54N

c.161T>A

1 paper

NM_003173.4

p.E58Q

c.172G>C