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.R2933fs

c.8797_8798fs

Surrounding Variants

1 paper

NM_170606.3

p.R2933M

c.8798G>T

1 paper

NM_170606.3

p.P2934S

c.8800C>T

1 paper

NM_170606.3

p.S2935L

c.8804C>T

1 paper

NM_170606.3

p.G2936insFs

c.8808dupG

2 papers

NM_170606.3

p.S2930*

c.8789C>G

2 papers

NM_170606.3

p.S2930*

c.8789C>A

1 paper

NM_170606.3

p.S2930P

c.8788T>C

1 paper

NM_170606.3

p.S2937F

c.8810C>T

1 paper

NM_170606.3

p.S2937_P2938ins2

c.8811_8812ins6

1 paper

NM_170606.3

p.R2933_P2938delFs

c.8797_8812del16

1 paper

NM_170606.3

p.P2940T

c.8818C>A

1 paper

NM_170606.3

p.K2926E

c.8776A>G