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.Y5156H

c.15466T>C

Surrounding Variants

1 paper

NM_003482.4

p.Y5156F

c.15467A>T

3 papers

NM_003482.4

p.Y5156C

c.15467A>G

1 paper

NM_003482.4

p.V5155_Y5156delFs

c.15463_15466del4

1 paper

NM_003482.4

p.V5155F

c.15463G>T

1 paper

NM_003482.4

p.I5157V

c.15469A>G

1 paper

NM_003482.4

p.V5155_Y5156del2

c.15463_15467del6

26 papers

NM_003482.4

p.R5154Q

c.15461G>A

2 papers

NM_003482.4

p.E5158*

c.15472G>T

2 papers

NM_003482.4

p.I5157insFs

c.15471dupT

3 papers

NM_003482.4

p.R5154W

c.15460C>T

2 papers

NM_003482.4

p.R5153fs

c.15457_15458fs

6 papers

NM_003482.4

p.R5153Q

c.15458G>A