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.K992_I993Splc

c.2976+1G>A

Surrounding Variants

4 papers

NM_170606.3

p.K992_I993Splc

c.2976+1G>C

1 paper

NM_170606.3

p.K992N

c.2976G>T

1 paper

NM_170606.3

p.K992N

c.2976G>C

1 paper

NM_170606.3

p.I991F

c.2971A>T

1 paper

NM_170606.3

p.S990C

c.2968A>T

16 papers

NM_170606.3

p.S990G

c.2968A>G

2 papers

NM_170606.3

p.C988*

c.2964T>A

35 papers

NM_170606.3

p.C988F

c.2963G>T

28 papers

NM_170606.3

p.Y987*

c.2961C>G

27 papers

NM_170606.3

p.Y987*

c.2961C>A

38 papers

NM_170606.3

p.Y987H

c.2959T>C

6 papers

NM_170606.3

p.P986P

c.2958A>G