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.S3713*

c.11138C>G

Surrounding Variants

2 papers

NM_003482.4

p.S3713*

c.11138C>A

1 paper

NM_003482.4

p.S3713delFs

c.11137delA

12 papers

NM_003482.4

p.R3714K

c.11141G>A

1 paper

NM_003482.4

p.D3712A

c.11135A>C

1 paper

NM_003482.4

p.D3712fs

c.11134_11135fs

1 paper

NM_003482.4

p.P3711_D3712insFs

c.11133_11134ins10

2 papers

NM_003482.4

p.L3715F

c.11143C>T

1 paper

NM_003482.4

p.G3710G

c.11130A>G

1 paper

NM_003482.4

p.G3710E

c.11129G>A

3 papers

NM_003482.4

p.G3710R

c.11128G>C

3 papers

NM_003482.4

p.G3710R

c.11128G>A

1 paper

NM_003482.4

p.L3716delFs

c.11147delA