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

1 paper

NM_170606.3

p.E336D

c.1008A>T

Surrounding Variants

1 paper

NM_170606.3

p.E336D

c.1008A>C

4 papers

NM_170606.3

p.E336G

c.1007A>G

1 paper

NM_170606.3

p.R337K

c.1010G>A

1 paper

NM_170606.3

p.H322_P335del14

c.964_1004del42

12 papers

NM_170606.3

p.P335P

c.1005T>A

2 papers

NM_170606.3

p.S338P

c.1012T>C

1 paper

NM_170606.3

p.P335L

c.1004C>T

1 paper

NM_170606.3

p.P335fs

c.1003_1004fs

1 paper

NM_170606.3

p.S338Splc

c.1012+1G>C

2 papers

NM_170606.3

p.S338Splc

c.1012+1G>A

1 paper

NM_170606.3

p.P335S

c.1003C>T

1 paper

NM_170606.3

p.P335T

c.1003C>A