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.S2149T

c.6445T>A

Surrounding Variants

1 paper

NM_003482.4

p.S2149P

c.6445T>C

1 paper

NM_003482.4

p.S2149L

c.6446C>T

1 paper

NM_003482.4

p.V2150fs

c.6448_6449fs

1 paper

NM_003482.4

p.V2150delFs

c.6448delC

1 paper

NM_003482.4

p.V2150V

c.6450G>A

2 papers

NM_003482.4

p.A2147V

c.6440C>T

1 paper

NM_003482.4

p.P2151fs

c.6451_6452fs

1 paper

NM_003482.4

p.P2151delFs

c.6452delG

8 papers

NM_003482.4

p.P2146L

c.6437C>T

2 papers

NM_003482.4

p.P2146S

c.6436C>T

1 paper

NM_003482.4

p.G2152V

c.6455G>T

1 paper

NM_003482.4

p.G2152D

c.6455G>A