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.R2750S

c.8250G>C

Surrounding Variants

1 paper

NM_170606.3

p.R2750S

c.8250G>T

1 paper

NM_170606.3

p.S2751A

c.8251T>G

1 paper

NM_170606.3

p.S2751*

c.8252C>G

1 paper

NM_170606.3

p.S2751*

c.8252C>A

1 paper

NM_170606.3

p.R2750G

c.8248A>G

1 paper

NM_170606.3

p.F2754C

c.8261T>G

1 paper

NM_170606.3

p.D2755H

c.8263G>C

1 paper

NM_170606.3

p.D2746fs

c.8236_8237fs

1 paper

NM_170606.3

p.I2756V

c.8266A>G

1 paper

NM_170606.3

p.N2744S

c.8231A>G

1 paper

NM_170606.3

p.N2744fs

c.8230_8231fs

1 paper

NM_170606.3

p.D2742insFs

c.8224_8225dupGA