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.P27P

c.81G>A

Surrounding Variants

1 paper

NM_170606.3

p.P27insFs

c.79_80dupCC

1 paper

NM_170606.3

p.A26_P27ins0

c.78_80dupCCC

1 paper

NM_170606.3

p.A26_P27insFs

c.77_80dup4

1 paper

NM_170606.3

p.P25_P27insFs

c.74_80dup7

1 paper

NM_170606.3

p.P27fs

c.79_80fs

1 paper

NM_170606.3

p.P27P

c.81G>C

2 papers

NM_170606.3

p.P27delFs

c.80delG

1 paper

NM_170606.3

p.A26_P27delFs

c.77_80del4

1 paper

NM_170606.3

p.A24_P27del0

c.72_80del9

1 paper

NM_170606.3

p.P27L

c.80C>T

1 paper

NM_170606.3

p.P27R

c.80C>G

1 paper

NM_170606.3

p.P27Q

c.80C>A