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.C327delFs

c.980delC

Surrounding Variants

2 papers

NM_170606.3

p.C327F

c.980G>T

1 paper

NM_170606.3

p.S321_L326delFs

c.961_976del16

1 paper

NM_170606.3

p.E329K

c.985G>A

1 paper

NM_170606.3

p.L326F

c.976C>T

1 paper

NM_170606.3

p.L325fs

c.973_974fs

1 paper

NM_170606.3

p.E329E

c.987A>G

1 paper

NM_170606.3

p.H330N

c.988C>A

1 paper

NM_170606.3

p.H330R

c.989A>G

1 paper

NM_170606.3

p.F324F

c.972C>T

1 paper

NM_170606.3

p.H330Q

c.990C>G

1 paper

NM_170606.3

p.H330Q

c.990C>A

5 papers

NM_170606.3

p.I331V

c.991A>G