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.C359S

c.1075T>A

Surrounding Variants

2 papers

NM_170606.3

p.C359fs

c.1075_1076fs

1 paper

NM_170606.3

p.C359S

c.1076G>C

1 paper

NM_170606.3

p.C359Y

c.1076G>A

2 papers

NM_170606.3

p.C359delFs

c.1075delA

1 paper

NM_170606.3

p.F358V

c.1072T>G

1 paper

NM_170606.3

p.F357F

c.1071C>T

4 papers

NM_170606.3

p.F357L

c.1071C>G

4 papers

NM_170606.3

p.F357L

c.1071C>A

4 papers

NM_170606.3

p.F357L

c.1069T>C

2 papers

NM_170606.3

p.T361A

c.1081A>G

1 paper

NM_170606.3

p.Q356Q

c.1068G>A

7 papers

NM_170606.3

p.T361I

c.1082C>T