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

2 papers

NM_003482.4

p.R5002Q

c.15005G>A

Surrounding Variants

1 paper

NM_003482.4

p.R5002W

c.15004C>T

1 paper

NM_003482.4

p.G4999fs

c.14995_14996fs

1 paper

NM_003482.4

p.G4999V

c.14996G>T

1 paper

NM_003482.4

p.D5005delFs

c.15013delC

1 paper

NM_003482.4

p.D5005fs

c.15013_15014fs

1 paper

NM_003482.4

p.K4998E

c.14992A>G

1 paper

NM_003482.4

p.I4996_Q4997delFs

c.14987_14990del4

7 papers

NM_003482.4

p.R5007W

c.15019C>T

2 papers

NM_003482.4

p.Q4997*

c.14989C>T

2 papers

NM_003482.4

p.E5008*

c.15022G>T

1 paper

NM_003482.4

p.E5008D

c.15024A>T

1 paper

NM_003482.4

p.E5008D

c.15024A>C