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.V4934I

c.14800G>A

Surrounding Variants

1 paper

NM_003482.4

p.V4934fs

c.14800_14801fs

1 paper

NM_003482.4

p.L4933*

c.14798T>A

2 papers

NM_003482.4

p.E4935*

c.14803G>T

1 paper

NM_003482.4

p.V4934_E4935delFs

c.14800_14803del4

1 paper

NM_003482.4

p.E4935D

c.14805A>T

1 paper

NM_003482.4

p.E4935D

c.14805A>C

1 paper

NM_003482.4

p.L4936V

c.14806C>G

1 paper

NM_003482.4

p.P4937S

c.14809C>T

3 papers

NM_003482.4

p.T4938A

c.14812A>G

1 paper

NM_003482.4

p.A4926_P4937del12

c.14776_14810del36

2 papers

NM_003482.4

p.T4938I

c.14813C>T

2 papers

NM_003482.4

p.T4938T

c.14814C>A