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.C5230fs

c.15688_15689fs

Surrounding Variants

2 papers

NM_003482.4

p.C5230Y

c.15689G>A

1 paper

NM_003482.4

p.R5229insFs

c.15686dupG

1 paper

NM_003482.4

p.R5229L

c.15686G>T

5 papers

NM_003482.4

p.R5229H

c.15686G>A

1 paper

NM_003482.4

p.S5231Y

c.15692C>A

1 paper

NM_003482.4

p.C5227del1

c.15679_15680delGCA

1 paper

NM_003482.4

p.I5232fs

c.15694_15695fs

3 papers

NM_003482.4

p.I5232V

c.15694A>G

2 papers

NM_003482.4

p.C5227_S5231insFs

c.15680_15693dup14

2 papers

NM_003482.4

p.C5227*

c.15681C>A

1 paper

NM_003482.4

p.I5232fs

c.15694_15695fs

1 paper

NM_003482.4

p.G5233V

c.15698G>T