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.I2894F

c.8680A>T

Surrounding Variants

2 papers

NM_170606.3

p.I2894L

c.8680A>C

2 papers

NM_170606.3

p.Q2895*

c.8683C>T

1 paper

NM_170606.3

p.Q2895fs

c.8683_8684fs

5 papers

NM_170606.3

p.Q2895Q

c.8685G>A

1 paper

NM_170606.3

p.S2897F

c.8690C>T

1 paper

NM_170606.3

p.S2897Y

c.8690C>A

2 papers

NM_170606.3

p.Q2899*

c.8695C>T

1 paper

NM_170606.3

p.G2888D

c.8663G>A

1 paper

NM_170606.3

p.P2901fs

c.8701_8702fs

1 paper

NM_170606.3

p.P2901A

c.8701C>G

1 paper

NM_170606.3

p.P2901fs

c.8701_8702fs

1 paper

NM_170606.3

p.E2885K

c.8653G>A