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.K834T

c.2501A>C

Surrounding Variants

1 paper

NM_170606.3

p.F835_S836insA

c.2503_2507ins3

1 paper

NM_170606.3

p.F835C

c.2504T>G

2 papers

NM_170606.3

p.R833I

c.2498G>T

2 papers

NM_170606.3

p.S836F

c.2507C>T

2 papers

NM_170606.3

p.K832R

c.2495A>G

1 paper

NM_170606.3

p.Y816_T831del16

c.2446_2492del48

1 paper

NM_170606.3

p.P837A

c.2509C>G

1 paper

NM_170606.3

p.P837R

c.2510C>G

1 paper

NM_170606.3

p.T831S

c.2492C>G

1 paper

NM_170606.3

p.T831N

c.2492C>A

1 paper

NM_170606.3

p.T831S

c.2491A>T

34 papers

NM_170606.3

p.G838S

c.2512G>A