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.G3640E

c.10919G>A

Surrounding Variants

1 paper

NM_003482.4

p.Q3642*

c.10924C>T

1 paper

NM_003482.4

p.P3637T

c.10909C>A

1 paper

NM_003482.4

p.P3644S

c.10930C>T

1 paper

NM_003482.4

p.L3636F

c.10906C>T

1 paper

NM_003482.4

p.G3646R

c.10936G>C

1 paper

NM_003482.4

p.G3646R

c.10936G>A

2 papers

NM_003482.4

p.Q3634*

c.10900C>T

1 paper

NM_003482.4

p.P3647fs

c.10939_10940fs

2 papers

NM_003482.4

p.G3646_P3647Fs

c.10938_10939delinsTFs

1 paper

NM_003482.4

p.G3633V

c.10898G>T

1 paper

NM_003482.4

p.G3633D

c.10898G>A

1 paper

NM_003482.4

p.P3647fs

c.10939_10940fs