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.R3044fs

c.9130_9131fs

Surrounding Variants

1 paper

NM_170606.3

p.R3044M

c.9131G>T

1 paper

NM_170606.3

p.L3046L

c.9138T>A

1 paper

NM_170606.3

p.L3048L

c.9142C>T

1 paper

NM_170606.3

p.E3049A

c.9146A>C

1 paper

NM_170606.3

p.E3050K

c.9148G>A

1 paper

NM_170606.3

p.Q3051E

c.9151C>G

1 paper

NM_170606.3

p.E3050del1

c.9148_9149delTTC

1 paper

NM_170606.3

p.Q3035*

c.9103C>T

1 paper

NM_170606.3

p.P3034T

c.9100C>A

1 paper

NM_170606.3

p.I3033delFs

c.9097delT

1 paper

NM_170606.3

p.Q3056*

c.9166C>T

1 paper

NM_170606.3

p.M3032T

c.9095T>C