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

1–12 of 4661 variants

50 papers

NM_170606.3

p.D348N

c.1042G>A

45 papers

NM_170606.3

p.K2797fs

c.8389_8390fs

42 papers

NM_170606.3

p.P2794delFs

c.8382delT

41 papers

NM_170606.3

p.T316S

c.946A>T

41 papers

NM_170606.3

p.T316S

c.947C>G

38 papers

NM_170606.3

p.G315S

c.943G>A

38 papers

NM_170606.3

p.Y987H

c.2959T>C

37 papers

NM_170606.3

p.K339N

c.1017G>C

36 papers

NM_170606.3

p.K339N

c.1017G>T

35 papers

NM_170606.3

p.R284Q

c.851G>A

35 papers

NM_170606.3

p.C988F

c.2963G>T

34 papers

NM_170606.3

p.G838S

c.2512G>A