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.Q304H

c.912G>T

Surrounding Variants

2 papers

NM_170606.3

p.Q304fs

c.910_911fs

2 papers

NM_170606.3

p.Q304insFs

c.911dupA

1 paper

NM_170606.3

p.Q304H

c.912G>C

1 paper

NM_170606.3

p.M305fs

c.913_914fs

1 paper

NM_170606.3

p.Q304P

c.911A>C

2 papers

NM_170606.3

p.Q304*

c.910C>T

2 papers

NM_170606.3

p.M305I

c.915G>T

3 papers

NM_170606.3

p.M305fs

c.913_914fs

2 papers

NM_170606.3

p.M305I

c.915G>C

2 papers

NM_170606.3

p.M305I

c.915G>A

1 paper

NM_170606.3

p.T303I

c.908C>T

1 paper

NM_170606.3

p.Y306delFs

c.916delA