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.E3007D

c.9021A>T

Surrounding Variants

1 paper

NM_003482.4

p.E3007D

c.9021A>C

2 papers

NM_003482.4

p.E3008*

c.9022G>T

1 paper

NM_003482.4

p.E3007delFs

c.9019delC

1 paper

NM_003482.4

p.E3007fs

c.9019_9020fs

1 paper

NM_003482.4

p.E3004_E3008del5

c.9010_9023del15

2 papers

NM_003482.4

p.A3002_D3005del4

c.9004_9014del12

1 paper

NM_003482.4

p.D3006N

c.9016G>A

1 paper

NM_003482.4

p.D3005delFs

c.9014_9015delAT

1 paper

NM_003482.4

p.D3005fs

c.9013_9014fs

1 paper

NM_003482.4

p.D3005N

c.9013G>A

1 paper

NM_003482.4

p.E3004K

c.9010G>A

2 papers

NM_003482.4

p.K3001*

c.9001A>T