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

8 papers

NM_170606.3

p.E4E

c.12G>A

Surrounding Variants

12 papers

NM_170606.3

p.E4D

c.12G>C

1 paper

NM_170606.3

p.E5*

c.13G>T

3 papers

NM_170606.3

p.E5Q

c.13G>C

1 paper

NM_170606.3

p.E5K

c.13G>A

2 papers

NM_170606.3

p.S3_E4insFs

c.9_10insG

1 paper

NM_170606.3

p.E4K

c.10G>A

1 paper

NM_170606.3

p.E5V

c.14A>T

1 paper

NM_170606.3

p.S3insFs

c.8dupC

1 paper

NM_170606.3

p.D6N

c.16G>A

4 papers

NM_170606.3

p.S3insFs

c.7dupT

3 papers

NM_170606.3

p.S3delins

c.7_8delinsGA

2 papers

NM_170606.3

p.S2insFs

c.6dupG