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.D2847fs

c.8539_8540fs

Surrounding Variants

1 paper

NM_170606.3

p.N2848fs

c.8542_8543fs

2 papers

NM_170606.3

p.D2847N

c.8539G>A

1 paper

NM_170606.3

p.V2849A

c.8546T>C

2 papers

NM_170606.3

p.D2850N

c.8548G>A

1 paper

NM_170606.3

p.T2851P

c.8551A>C

1 paper

NM_170606.3

p.T2851fs

c.8551_8552fs

1 paper

NM_170606.3

p.T2851_P2852insFs

c.8553_8554insTT

1 paper

NM_170606.3

p.P2852T

c.8554C>A

1 paper

NM_170606.3

p.D2843Y

c.8527G>T

1 paper

NM_170606.3

p.D2843N

c.8527G>A

5 papers

NM_170606.3

p.N2842fs

c.8524_8525fs

1 paper

NM_170606.3

p.P2852fs

c.8554_8555fs