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

10 papers

NM_170606.3

p.R2610Q

c.7829G>A

Surrounding Variants

3 papers

NM_170606.3

p.R2610*

c.7828C>T

5 papers

NM_170606.3

p.R2609Q

c.7826G>A

9 papers

NM_170606.3

p.R2609*

c.7825C>T

1 paper

NM_170606.3

p.P2607S

c.7819C>T

1 paper

NM_170606.3

p.G2614D

c.7841G>A

1 paper

NM_170606.3

p.L2615insFs

c.7843dupC

1 paper

NM_170606.3

p.H2604R

c.7811A>G

1 paper

NM_170606.3

p.P2616fs

c.7846_7847fs

1 paper

NM_170606.3

p.Q2618*

c.7852C>T

1 paper

NM_170606.3

p.Q2618K

c.7852C>A

1 paper

NM_170606.3

p.P2602R

c.7805C>G

1 paper

NM_170606.3

p.P2602S

c.7804C>T