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.E299delFs

c.897delT

Surrounding Variants

1 paper

NM_170606.3

p.E299insFs

c.896_897insA

3 papers

NM_170606.3

p.E300D

c.900G>T

3 papers

NM_170606.3

p.E300D

c.900G>C

1 paper

NM_170606.3

p.K301R

c.902A>G

4 papers

NM_170606.3

p.C302Y

c.905G>A

2 papers

NM_170606.3

p.C297C

c.891C>T

2 papers

NM_170606.3

p.C302*

c.906T>A

1 paper

NM_170606.3

p.T303I

c.908C>T

1 paper

NM_170606.3

p.K296N

c.888A>T

1 paper

NM_170606.3

p.K296R

c.887A>G

2 papers

NM_170606.3

p.Q304*

c.910C>T

1 paper

NM_170606.3

p.I295insFs

c.885dupC