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.V548delFs

c.1642_1643delAC

Surrounding Variants

2 papers

NM_170606.3

p.E549K

c.1645G>A

1 paper

NM_170606.3

p.E547K

c.1639G>A

1 paper

NM_170606.3

p.M546L

c.1636A>T

1 paper

NM_170606.3

p.M546L

c.1636A>C

1 paper

NM_170606.3

p.E545D

c.1635A>T

1 paper

NM_170606.3

p.E545D

c.1635A>C

1 paper

NM_170606.3

p.E552K

c.1654G>A

2 papers

NM_170606.3

p.E545G

c.1634A>G

1 paper

NM_170606.3

p.E545A

c.1634A>C

1 paper

NM_170606.3

p.E545*

c.1633G>T

1 paper

NM_170606.3

p.E545Q

c.1633G>C

17 papers

NM_170606.3

p.E545K

c.1633G>A