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.S4475R

c.13425C>A

Surrounding Variants

1 paper

NM_003482.4

p.S4475R

c.13425C>G

1 paper

NM_003482.4

p.Q4473_S4475delFs

c.13418_13424del7

1 paper

NM_003482.4

p.S4475N

c.13424G>A

1 paper

NM_003482.4

p.S4475G

c.13423A>G

1 paper

NM_003482.4

p.S4475R

c.13423A>C

1 paper

NM_003482.4

p.G4477R

c.13429G>C

1 paper

NM_003482.4

p.G4477R

c.13429G>A

3 papers

NM_003482.4

p.R4478W

c.13432C>T

2 papers

NM_003482.4

p.R4478insFs

c.13432dupC

4 papers

NM_003482.4

p.R4478Q

c.13433G>A

2 papers

NM_003482.4

p.Q4473*

c.13417C>T

2 papers

NM_003482.4

p.K4470_N4471del2

c.13408_13412del6