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

2 papers

NM_170606.3

p.D332G

c.995A>G

Surrounding Variants

5 papers

NM_170606.3

p.D332N

c.994G>A

2 papers

NM_170606.3

p.D332D

c.996C>T

1 paper

NM_170606.3

p.I331I

c.993T>A

1 paper

NM_170606.3

p.Q333*

c.997C>T

1 paper

NM_170606.3

p.I331T

c.992T>C

5 papers

NM_170606.3

p.I331V

c.991A>G

1 paper

NM_170606.3

p.H322_H330del9

c.964_989del27

1 paper

NM_170606.3

p.A334T

c.1000G>A

1 paper

NM_170606.3

p.H330Q

c.990C>G

1 paper

NM_170606.3

p.H330Q

c.990C>A

1 paper

NM_170606.3

p.A334V

c.1001C>T

1 paper

NM_170606.3

p.A334G

c.1001C>G