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.K2710delFs

c.8129_8130delTT

Surrounding Variants

1 paper

NM_170606.3

p.K2710fs

c.8128_8129fs

1 paper

NM_170606.3

p.L2712*

c.8135T>G

1 paper

NM_170606.3

p.L2712*

c.8135T>A

2 papers

NM_170606.3

p.D2713G

c.8138A>G

1 paper

NM_170606.3

p.E2708*

c.8122G>T

2 papers

NM_170606.3

p.E2708K

c.8122G>A

1 paper

NM_170606.3

p.D2714E

c.8142T>G

1 paper

NM_170606.3

p.D2714E

c.8142T>A

1 paper

NM_170606.3

p.V2707fs

c.8119_8120fs

1 paper

NM_170606.3

p.V2707I

c.8119G>A

1 paper

NM_170606.3

p.G2706E

c.8117G>A

1 paper

NM_170606.3

p.E2705*

c.8113G>T