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.A334T

c.1000G>A

Surrounding Variants

1 paper

NM_170606.3

p.A334V

c.1001C>T

1 paper

NM_170606.3

p.A334G

c.1001C>G

1 paper

NM_170606.3

p.P335fs

c.1003_1004fs

1 paper

NM_170606.3

p.P335S

c.1003C>T

1 paper

NM_170606.3

p.Q333*

c.997C>T

1 paper

NM_170606.3

p.P335T

c.1003C>A

1 paper

NM_170606.3

p.P335Fs

c.1003delinsGAFs

2 papers

NM_170606.3

p.D332D

c.996C>T

1 paper

NM_170606.3

p.P335L

c.1004C>T

12 papers

NM_170606.3

p.P335P

c.1005T>A

2 papers

NM_170606.3

p.D332G

c.995A>G

5 papers

NM_170606.3

p.D332N

c.994G>A