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.E2838G

c.8513A>G

Surrounding Variants

1 paper

NM_170606.3

p.E2838V

c.8513A>T

1 paper

NM_170606.3

p.E2838K

c.8512G>A

1 paper

NM_170606.3

p.T2839fs

c.8515_8516fs

5 papers

NM_170606.3

p.N2842fs

c.8524_8525fs

2 papers

NM_170606.3

p.E2834D

c.8502A>T

2 papers

NM_170606.3

p.E2834D

c.8502A>C

5 papers

NM_170606.3

p.N2842fs

c.8524_8525fs

4 papers

NM_170606.3

p.N2842insFs

c.8525dupA

1 paper

NM_170606.3

p.E2840delFs

c.8519delT

1 paper

NM_170606.3

p.E2834*

c.8500G>T

1 paper

NM_170606.3

p.D2843Y

c.8527G>T

1 paper

NM_170606.3

p.D2843N

c.8527G>A