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.A2180T

c.6538G>A

Surrounding Variants

1 paper

NM_003482.4

p.P2176_L2179delFs

c.6526_6535del10

1 paper

NM_003482.4

p.A2182T

c.6544G>A

1 paper

NM_003482.4

p.A2182insFs

c.6546dupC

2 papers

NM_003482.4

p.Y2183fs

c.6547_6548fs

1 paper

NM_003482.4

p.P2176fs

c.6526_6527fs

2 papers

NM_003482.4

p.Y2183C

c.6548A>G

1 paper

NM_003482.4

p.Y2183fs

c.6547_6548fs

1 paper

NM_003482.4

p.P2176L

c.6527C>T

1 paper

NM_003482.4

p.P2176S

c.6526C>T

1 paper

NM_003482.4

p.P2176fs

c.6526_6527fs

1 paper

NM_003482.4

p.D2175D

c.6525C>T

1 paper

NM_003482.4

p.S2173_Q2174del2

c.6517_6521del6