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.N2820S

c.8459A>G

Surrounding Variants

2 papers

NM_170606.3

p.T2819I

c.8456C>T

1 paper

NM_170606.3

p.T2819insFs

c.8456_8457ins4

1 paper

NM_170606.3

p.T2819fs

c.8455_8456fs

1 paper

NM_170606.3

p.V2818delFs

c.8454delA

1 paper

NM_170606.3

p.V2818I

c.8452G>A

1 paper

NM_170606.3

p.T2817fs

c.8449_8450fs

1 paper

NM_170606.3

p.T2824fs

c.8470_8471fs

2 papers

NM_170606.3

p.S2816fs

c.8446_8447fs

3 papers

NM_170606.3

p.S2816Fs

c.8446delinsATFs

2 papers

NM_170606.3

p.S2816fs

c.8446_8447fs

1 paper

NM_170606.3

p.E2825*

c.8473G>T

1 paper

NM_170606.3

p.E2825A

c.8474A>C