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.N2949I

c.8846A>T

Surrounding Variants

5 papers

NM_170606.3

p.H2950fs

c.8848_8849fs

1 paper

NM_170606.3

p.H2950R

c.8849A>G

4 papers

NM_170606.3

p.H2950delFs

c.8849_8850delAT

1 paper

NM_170606.3

p.V2951G

c.8852T>G

1 paper

NM_170606.3

p.P2947S

c.8839C>T

1 paper

NM_170606.3

p.S2946S

c.8838C>T

1 paper

NM_170606.3

p.S2946F

c.8837C>T

1 paper

NM_170606.3

p.S2952fs

c.8854_8855fs

2 papers

NM_170606.3

p.S2953Fs

c.8858delinsAGFs

2 papers

NM_170606.3

p.S2953fs

c.8857_8858fs

1 paper

NM_170606.3

p.P2944P

c.8832G>T

1 paper

NM_170606.3

p.P2944L

c.8831C>T