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

3 papers

NM_170606.3

p.S349R

c.1045A>C

Surrounding Variants

1 paper

NM_170606.3

p.S349N

c.1046G>A

1 paper

NM_170606.3

p.D348_S349delFs

c.1044_1045delTG

1 paper

NM_170606.3

p.D348E

c.1044C>G

1 paper

NM_170606.3

p.D348E

c.1044C>A

3 papers

NM_170606.3

p.S349R

c.1047C>G

3 papers

NM_170606.3

p.S349R

c.1047C>A

1 paper

NM_170606.3

p.C347_S349delFs

c.1039_1046del8

1 paper

NM_170606.3

p.A345_S349del0

c.1035_1046del12

1 paper

NM_170606.3

p.K339_D348delFs

c.1017_1042del26

50 papers

NM_170606.3

p.D348N

c.1042G>A

1 paper

NM_170606.3

p.P350S

c.1048C>T

3 papers

NM_170606.3

p.P350L

c.1049C>T