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.E107V

c.320A>T

Surrounding Variants

1 paper

NM_003482.4

p.E107D

c.321G>C

1 paper

NM_003482.4

p.A108T

c.322G>A

1 paper

NM_003482.4

p.A108V

c.323C>T

1 paper

NM_003482.4

p.A108E

c.323C>A

1 paper

NM_003482.4

p.N106S

c.317A>G

1 paper

NM_003482.4

p.V109M

c.325G>A

2 papers

NM_003482.4

p.V109A

c.326T>C

2 papers

NM_003482.4

p.P105L

c.314C>T

1 paper

NM_003482.4

p.V109delFs

c.326delA

1 paper

NM_003482.4

p.P105S

c.313C>T

1 paper

NM_003482.4

p.G104delFs

c.311delC

1 paper

NM_003482.4

p.L110V

c.328C>G