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.R380P

c.1139G>C

Surrounding Variants

23 papers

NM_170606.3

p.R380L

c.1139G>T

3 papers

NM_170606.3

p.R380fs

c.1138_1139fs

4 papers

NM_170606.3

p.R380delFs

c.1139delC

1 paper

NM_170606.3

p.R380C

c.1138C>T

1 paper

NM_170606.3

p.A381G

c.1142C>G

2 papers

NM_170606.3

p.A381E

c.1142C>A

1 paper

NM_170606.3

p.G382R

c.1144G>C

1 paper

NM_170606.3

p.G382S

c.1144G>A

1 paper

NM_170606.3

p.L378V

c.1132T>G

6 papers

NM_170606.3

p.P377P

c.1131A>T

2 papers

NM_170606.3

p.W383L

c.1148G>T

5 papers

NM_170606.3

p.W383*

c.1148G>A