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.E10*

c.28G>T

Surrounding Variants

1 paper

NM_170606.3

p.V9_E10ins1

c.27_28insAGT

1 paper

NM_170606.3

p.V9_E10insFs

c.27_28ins17

1 paper

NM_170606.3

p.E10G

c.29A>G

1 paper

NM_170606.3

p.E4_E10delFs

c.10_28del19

1 paper

NM_170606.3

p.V9M

c.25G>A

2 papers

NM_170606.3

p.Q11*

c.31C>T

1 paper

NM_170606.3

p.S3_Q11delFs

c.8_32del25

2 papers

NM_170606.3

p.P12S

c.34C>T

2 papers

NM_170606.3

p.S8C

c.22A>T

1 paper

NM_170606.3

p.S8G

c.22A>G

1 paper

NM_170606.3

p.P12Q

c.35C>A

1 paper

NM_170606.3

p.K7R

c.20A>G