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.S818L

c.2453C>T

Surrounding Variants

1 paper

NM_170606.3

p.S818*

c.2453C>G

1 paper

NM_170606.3

p.S818*

c.2453C>A

1 paper

NM_170606.3

p.I817fs

c.2449_2450fs

2 papers

NM_170606.3

p.Y816delFs

c.2448delG

1 paper

NM_170606.3

p.Y816del1

c.2446_2447delGTA

1 paper

NM_170606.3

p.Y816Fs

c.2448delinsATFs

22 papers

NM_170606.3

p.Y816*

c.2448C>G

18 papers

NM_170606.3

p.Y816fs

c.2446_2447fs

28 papers

NM_170606.3

p.Y816insFs

c.2447dupA

22 papers

NM_170606.3

p.Y816*

c.2448C>A

15 papers

NM_170606.3

p.T820I

c.2459C>T

1 paper

NM_170606.3

p.Y816insFs

c.2446_2447insT