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.Q3078fs

c.9232_9233fs

Surrounding Variants

2 papers

NM_170606.3

p.R3079*

c.9235C>T

1 paper

NM_170606.3

p.R3079Q

c.9236G>A

1 paper

NM_170606.3

p.Q3078*

c.9232C>T

2 papers

NM_170606.3

p.R3077H

c.9230G>A

1 paper

NM_170606.3

p.E3081G

c.9242A>G

1 paper

NM_170606.3

p.M3075I

c.9225G>T

1 paper

NM_170606.3

p.M3075I

c.9225G>C

1 paper

NM_170606.3

p.M3075I

c.9225G>A

4 papers

NM_170606.3

p.P3082S

c.9244C>T

15 papers

NM_170606.3

p.P3082L

c.9245C>T

1 paper

NM_170606.3

p.P3082R

c.9245C>G

1 paper

NM_170606.3

p.Q3078_F3083delFs

c.9232_9247del16