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

3 papers

NM_170606.3

p.M825I

c.2475G>C

Surrounding Variants

3 papers

NM_170606.3

p.M825I

c.2475G>T

3 papers

NM_170606.3

p.M825I

c.2475G>A

4 papers

NM_170606.3

p.G826C

c.2476G>T

1 paper

NM_170606.3

p.G826D

c.2477G>A

2 papers

NM_170606.3

p.G824fs

c.2470_2471fs

2 papers

NM_170606.3

p.G824V

c.2471G>T

2 papers

NM_170606.3

p.G824D

c.2471G>A

2 papers

NM_170606.3

p.I823fs

c.2467_2468fs

2 papers

NM_170606.3

p.I823insFs

c.2468_2469insC

1 paper

NM_170606.3

p.I823insFs

c.2467dupA

13 papers

NM_170606.3

p.I823T

c.2468T>C

2 papers

NM_170606.3

p.I823Fs

c.2468delinsACFs