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

1 paper

NM_003482.4

p.G2264R

c.6790G>A

Surrounding Variants

1 paper

NM_003482.4

p.G2264R

c.6790G>C

1 paper

NM_003482.4

p.V2263fs

c.6787_6788fs

1 paper

NM_003482.4

p.V2263G

c.6788T>G

1 paper

NM_003482.4

p.V2263L

c.6787G>T

1 paper

NM_003482.4

p.V2263_G2264insC

c.6787_6791ins3

1 paper

NM_003482.4

p.V2263L

c.6787G>C

1 paper

NM_003482.4

p.G2265fs

c.6793_6794fs

1 paper

NM_003482.4

p.G2265fs

c.6793_6794fs

3 papers

NM_003482.4

p.G2265delFs

c.6794delC

1 paper

NM_003482.4

p.S2260N

c.6779G>A

1 paper

NM_003482.4

p.K2267N

c.6801A>T

1 paper

NM_003482.4

p.K2267N

c.6801A>C