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.H307Q

c.921T>G

Surrounding Variants

3 papers

NM_170606.3

p.H307N

c.919C>A

21 papers

NM_170606.3

p.Y306*

c.918T>G

21 papers

NM_170606.3

p.Y306*

c.918T>A

1 paper

NM_170606.3

p.Y306delFs

c.917delT

28 papers

NM_170606.3

p.P309S

c.925C>T

1 paper

NM_170606.3

p.Y306delFs

c.916delA

7 papers

NM_170606.3

p.P309L

c.926C>T

1 paper

NM_170606.3

p.P309R

c.926C>G

1 paper

NM_170606.3

p.P309H

c.926C>A

1 paper

NM_170606.3

p.P309P

c.927T>A

2 papers

NM_170606.3

p.M305I

c.915G>T

3 papers

NM_170606.3

p.M305fs

c.913_914fs