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

2 papers

NM_170606.3

p.L974F

c.2922A>C

Surrounding Variants

2 papers

NM_170606.3

p.L974F

c.2922A>T

7 papers

NM_170606.3

p.A976T

c.2926G>A

1 paper

NM_170606.3

p.A976D

c.2927C>A

1 paper

NM_170606.3

p.R973*

c.2917A>T

13 papers

NM_170606.3

p.R973G

c.2917A>G

1 paper

NM_170606.3

p.G972E

c.2915G>A

4 papers

NM_170606.3

p.G972R

c.2914G>C

4 papers

NM_170606.3

p.G972R

c.2914G>A

2 papers

NM_170606.3

p.C977Y

c.2930G>A

3 papers

NM_170606.3

p.E971K

c.2911G>A

1 paper

NM_170606.3

p.S978fs

c.2932_2933fs

1 paper

NM_170606.3

p.S978delFs

c.2933delG