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.G2654fs

c.7960_7961fs

Surrounding Variants

1 paper

NM_170606.3

p.G2654insFs

c.7960_7961insTG

3 papers

NM_170606.3

p.L2653P

c.7958T>C

6 papers

NM_170606.3

p.L2653V

c.7957C>G

1 paper

NM_170606.3

p.H2651Y

c.7951C>T

2 papers

NM_170606.3

p.E2659*

c.7975G>T

1 paper

NM_170606.3

p.L2662fs

c.7984_7985fs

1 paper

NM_170606.3

p.L2662delFs

c.7985delA

1 paper

NM_170606.3

p.M2644I

c.7932G>T

1 paper

NM_170606.3

p.M2644I

c.7932G>C

1 paper

NM_170606.3

p.M2644I

c.7932G>A

2 papers

NM_170606.3

p.S2663*

c.7988C>G

2 papers

NM_170606.3

p.S2663*

c.7988C>A