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.P4443delFs

c.13328delG

Surrounding Variants

1 paper

NM_003482.4

p.P4443fs

c.13327_13328fs

1 paper

NM_003482.4

p.A4442fs

c.13324_13325fs

1 paper

NM_003482.4

p.A4442delFs

c.13324delC

1 paper

NM_003482.4

p.A4442S

c.13324G>T

1 paper

NM_003482.4

p.A4442P

c.13324G>C

1 paper

NM_003482.4

p.A4442T

c.13324G>A

1 paper

NM_003482.4

p.G4441W

c.13321G>T

4 papers

NM_003482.4

p.I4440delFs

c.13320delT

1 paper

NM_003482.4

p.S4446fs

c.13336_13337fs

2 papers

NM_003482.4

p.I4440fs

c.13318_13319fs

1 paper

NM_003482.4

p.I4440T

c.13319T>C

1 paper

NM_003482.4

p.I4440V

c.13318A>G