Varaico: Literature-Extracted Genetic Variants

KMT2C

1,696 papers

RefSeq Summary

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc finger...

Pfam Domains

zf-HC5HC2Haa 252–331UCSCPHD-like zinc-binding domain

PHDaa 344–388UCSCPHD-finger

PHDaa 391–435UCSCPHD-finger

PHDaa 960–1007UCSCPHD-finger

PHDaa 1010–1054UCSCPHD-finger

zf-HC5HC2H_2aa 4400–4512UCSCPHD-zinc-finger like domain

Gene Aliases

HGNC Name

lysine methyltransferase 2C

HGNC Previous Symbol

MLL3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

36 papers

NM_170606.3

p.K339N

c.1017G>T

Surrounding Variants

37 papers

NM_170606.3

p.K339N

c.1017G>C

3 papers

NM_170606.3

p.E340K

c.1018G>A

2 papers

NM_170606.3

p.K339M

c.1016A>T

1 paper

NM_170606.3

p.S338S

c.1014G>A

1 paper

NM_170606.3

p.E340D

c.1020A>T

1 paper

NM_170606.3

p.E340D

c.1020A>C

1 paper

NM_170606.3

p.E340fs

c.1018_1019fs

1 paper

NM_170606.3

p.S338fs

c.1012_1013fs

18 papers

NM_170606.3

p.S338L

c.1013C>T

2 papers

NM_170606.3

p.S338P

c.1012T>C

1 paper

NM_170606.3

p.S338Splc

c.1013-1G>A

1 paper

NM_170606.3

p.D341V

c.1022A>T