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.Q2680*

c.8038C>T

Surrounding Variants

4 papers

NM_170606.3

p.Q2680Q

c.8040G>A

1 paper

NM_170606.3

p.P2681L

c.8042C>T

1 paper

NM_170606.3

p.S2682Y

c.8045C>A

1 paper

NM_170606.3

p.D2683Y

c.8047G>T

1 paper

NM_170606.3

p.S2672F

c.8015C>T

1 paper

NM_170606.3

p.T2671M

c.8012C>T

1 paper

NM_170606.3

p.T2670I

c.8009C>T

1 paper

NM_170606.3

p.T2670K

c.8009C>A

1 paper

NM_170606.3

p.D2690N

c.8068G>A

2 papers

NM_170606.3

p.D2692A

c.8075A>C

1 paper

NM_170606.3

p.D2692E

c.8076T>G

1 paper

NM_170606.3

p.D2692E

c.8076T>A