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

42 papers

NM_170606.3

p.P2794delFs

c.8382delT

Surrounding Variants

45 papers

NM_170606.3

p.K2797fs

c.8389_8390fs

14 papers

NM_170606.3

p.K2797insFs

c.8390dupA

8 papers

NM_170606.3

p.E2798fs

c.8392_8393fs

15 papers

NM_170606.3

p.K2797fs

c.8389_8390fs

10 papers

NM_170606.3

p.E2798fs

c.8392_8393fs

2 papers

NM_170606.3

p.E2800K

c.8398G>A

2 papers

NM_170606.3

p.Q2799_E2800delins

c.8397_8398delinsGA

1 paper

NM_170606.3

p.P2794insFs

c.8381_8382insA

1 paper

NM_170606.3

p.P2794S

c.8380C>T

1 paper

NM_170606.3

p.N2801T

c.8402A>C

1 paper

NM_170606.3

p.P2794fs

c.8380_8381fs

1 paper

NM_170606.3

p.E2793*

c.8377G>T