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.Q318E

c.952C>G

Surrounding Variants

1 paper

NM_170606.3

p.Q318fs

c.952_953fs

5 papers

NM_170606.3

p.Q318*

c.952C>T

1 paper

NM_170606.3

p.Q318K

c.952C>A

1 paper

NM_170606.3

p.Q318Q

c.954G>A

1 paper

NM_170606.3

p.D319Y

c.955G>T

1 paper

NM_170606.3

p.T316T

c.948C>T

3 papers

NM_170606.3

p.T316I

c.947C>T

41 papers

NM_170606.3

p.T316S

c.947C>G

4 papers

NM_170606.3

p.T316N

c.947C>A

1 paper

NM_170606.3

p.F320L

c.958T>C

41 papers

NM_170606.3

p.T316S

c.946A>T

1 paper

NM_170606.3

p.G315_T316delins

c.943_946delinsTGCT