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.V375G

c.1124T>G

Surrounding Variants

1 paper

NM_170606.3

p.V375D

c.1124T>A

1 paper

NM_170606.3

p.A374A

c.1122G>A

4 papers

NM_170606.3

p.T376I

c.1127C>T

1 paper

NM_170606.3

p.A374V

c.1121C>T

1 paper

NM_170606.3

p.T376N

c.1127C>A

1 paper

NM_170606.3

p.A374E

c.1121C>A

1 paper

NM_170606.3

p.I373K

c.1118T>A

6 papers

NM_170606.3

p.P377P

c.1131A>T

1 paper

NM_170606.3

p.L371_D372del2

c.1111_1115del6

1 paper

NM_170606.3

p.L378V

c.1132T>G

1 paper

NM_170606.3

p.D372V

c.1115A>T

1 paper

NM_170606.3

p.D372fs

c.1114_1115fs