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.A561T

c.1681G>A

Surrounding Variants

1 paper

NM_170606.3

p.Q560fs

c.1678_1679fs

1 paper

NM_170606.3

p.V556_E559delFs

c.1666_1676del11

2 papers

NM_170606.3

p.A562V

c.1685C>T

1 paper

NM_170606.3

p.A562G

c.1685C>G

8 papers

NM_170606.3

p.K564*

c.1690A>T

1 paper

NM_170606.3

p.D565Y

c.1693G>T

1 paper

NM_170606.3

p.V566I

c.1696G>A

3 papers

NM_170606.3

p.M555I

c.1665G>T

3 papers

NM_170606.3

p.M555I

c.1665G>C

3 papers

NM_170606.3

p.M555I

c.1665G>A

2 papers

NM_170606.3

p.N567D

c.1699A>G

2 papers

NM_170606.3

p.N567S

c.1700A>G