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.G72R

c.214G>C

Surrounding Variants

2 papers

NM_003482.4

p.G72R

c.214G>A

1 paper

NM_003482.4

p.G72E

c.215G>A

1 paper

NM_003482.4

p.C71F

c.212G>T

1 paper

NM_003482.4

p.C71_G72insCC

c.211_215ins6

1 paper

NM_003482.4

p.N70delFs

c.209delT

1 paper

NM_003482.4

p.E73D

c.219G>T

1 paper

NM_003482.4

p.E73D

c.219G>C

1 paper

NM_003482.4

p.N70I

c.209A>T

1 paper

NM_003482.4

p.N70S

c.209A>G

1 paper

NM_003482.4

p.N70T

c.209A>C

2 papers

NM_003482.4

p.N70Y

c.208A>T

1 paper

NM_003482.4

p.N70_C71ins10

c.208_212ins30