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.G23_A24delFs

c.68_71del4

Surrounding Variants

5 papers

NM_170606.3

p.A24V

c.71C>T

1 paper

NM_170606.3

p.P25S

c.73C>T

2 papers

NM_170606.3

p.A24S

c.70G>T

1 paper

NM_170606.3

p.A24insFs

c.70_71ins10

1 paper

NM_170606.3

p.A24P

c.70G>C

1 paper

NM_170606.3

p.A24T

c.70G>A

1 paper

NM_170606.3

p.A26P

c.76G>C

1 paper

NM_170606.3

p.P18_P22delFs

c.53_66del14

2 papers

NM_170606.3

p.A26V

c.77C>T

1 paper

NM_170606.3

p.A26G

c.77C>G

2 papers

NM_170606.3

p.P27fs

c.79_80fs

2 papers

NM_170606.3

p.P27S

c.79C>T