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.E283_R284Splc

c.850-30A>G

Surrounding Variants

1 paper

NM_170606.3

p.E283_R284Splc

c.850-25G>T

2 papers

NM_170606.3

p.E283_R284Splc

c.850-17T>G

1 paper

NM_170606.3

p.E283_R284Splc

c.850-7C>T

1 paper

NM_170606.3

p.E283_R284Splc

c.850-54G>A

1 paper

NM_170606.3

p.E283_R284Splc

c.850-59T>C

7 papers

NM_170606.3

p.R284*

c.850C>T

1 paper

NM_170606.3

p.R284fs

c.850_851fs

35 papers

NM_170606.3

p.R284Q

c.851G>A

2 papers

NM_170606.3

p.E283_R284Splc

c.850-63C>T

1 paper

NM_170606.3

p.A286V

c.857C>T

3 papers

NM_170606.3

p.A286E

c.857C>A

1 paper

NM_170606.3

p.E283_R284Splc

c.850-71C>T