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.P2780S

c.8338C>T

Surrounding Variants

1 paper

NM_170606.3

p.I2781V

c.8341A>G

1 paper

NM_170606.3

p.D2778H

c.8332G>C

1 paper

NM_170606.3

p.D2782G

c.8345A>G

1 paper

NM_170606.3

p.D2783N

c.8347G>A

1 paper

NM_170606.3

p.L2777fs

c.8329_8330fs

1 paper

NM_170606.3

p.E2776*

c.8326G>T

1 paper

NM_170606.3

p.E2776K

c.8326G>A

1 paper

NM_170606.3

p.K2784E

c.8350A>G

3 papers

NM_170606.3

p.E2775*

c.8323G>T

1 paper

NM_170606.3

p.Q2788*

c.8362C>T

1 paper

NM_170606.3

p.D2768Y

c.8302G>T

1 paper

NM_170606.3

p.E2793*

c.8377G>T