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.V390M

c.1168G>A

Surrounding Variants

1 paper

NM_170606.3

p.V390L

c.1168G>T

1 paper

NM_170606.3

p.V390L

c.1168G>C

3 papers

NM_170606.3

p.K389N

c.1167A>T

3 papers

NM_170606.3

p.K389N

c.1167A>C

1 paper

NM_170606.3

p.C391G

c.1171T>G

1 paper

NM_170606.3

p.C391S

c.1172G>C

2 papers

NM_170606.3

p.C391Y

c.1172G>A

1 paper

NM_170606.3

p.C388C

c.1164C>T

1 paper

NM_170606.3

p.C388Y

c.1163G>A

33 papers

NM_170606.3

p.C391*

c.1173C>A

1 paper

NM_170606.3

p.E387E

c.1161G>A

1 paper

NM_170606.3

p.Q392R

c.1175A>G