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.E21delFs

c.62delT

Surrounding Variants

1 paper

NM_170606.3

p.P22S

c.64C>T

1 paper

NM_170606.3

p.P22T

c.64C>A

1 paper

NM_170606.3

p.E21insFs

c.61dupG

1 paper

NM_170606.3

p.E21Q

c.61G>C

1 paper

NM_170606.3

p.E21fs

c.61_62fs

1 paper

NM_170606.3

p.P22L

c.65C>T

1 paper

NM_170606.3

p.E20insFs

c.59dupA

1 paper

NM_170606.3

p.P18_P22delFs

c.53_66del14

1 paper

NM_170606.3

p.E20*

c.58G>T

1 paper

NM_170606.3

p.P19insFs

c.57dupC

1 paper

NM_170606.3

p.E20Q

c.58G>C

1 paper

NM_170606.3

p.P18_P19del2

c.52_56del6