Varaico: Literature-Extracted Genetic Variants

KMT2D

2,563 papers

RefSeq Summary

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been sh...

Pfam Domains

zf-HC5HC2Haa 139–218UCSCPHD-like zinc-binding domain

PHDaa 229–273UCSCPHD-finger

PHDaa 276–320UCSCPHD-finger

PHDaa 1380–1427UCSCPHD-finger

PHDaa 1430–1474UCSCPHD-finger

zf-HC5HC2H_2aa 5030–5144UCSCPHD-zinc-finger like domain

Gene Aliases

HGNC Name

lysine methyltransferase 2D

HGNC Previous Symbols

TNRC21; MLL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

27 papers

NM_003482.4

p.R2099*

c.6295C>T

Surrounding Variants

1 paper

NM_003482.4

p.R2099fs

c.6295_6296fs

3 papers

NM_003482.4

p.R2099Q

c.6296G>A

1 paper

NM_003482.4

p.D2098N

c.6292G>A

1 paper

NM_003482.4

p.P2100fs

c.6298_6299fs

1 paper

NM_003482.4

p.P2100S

c.6298C>T

1 paper

NM_003482.4

p.P2100A

c.6298C>G

2 papers

NM_003482.4

p.P2100L

c.6299C>T

1 paper

NM_003482.4

p.P2100Q

c.6299C>A

1 paper

NM_003482.4

p.R2099_P2100delFs

c.6297_6298delGT

1 paper

NM_003482.4

p.R2099_P2100insFs

c.6297_6300dup4

1 paper

NM_003482.4

p.A2101V

c.6302C>T

1 paper

NM_003482.4

p.A2101fs

c.6301_6302fs