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

6 papers

NM_003482.4

p.A2119fs

c.6355_6356fs

Surrounding Variants

1 paper

NM_003482.4

p.A2120fs

c.6358_6359fs

1 paper

NM_003482.4

p.A2120insFs

c.6358_6359ins7

8 papers

NM_003482.4

p.A2119fs

c.6355_6356fs

3 papers

NM_003482.4

p.P2118insFs

c.6354dupC

9 papers

NM_003482.4

p.P2118delFs

c.6354delG

1 paper

NM_003482.4

p.P2118P

c.6354C>T

2 papers

NM_003482.4

p.P2118fs

c.6352_6353fs

1 paper

NM_003482.4

p.A2121S

c.6361G>T

1 paper

NM_003482.4

p.A2121P

c.6361G>C

1 paper

NM_003482.4

p.A2121T

c.6361G>A

1 paper

NM_003482.4

p.P2118L

c.6353C>T

1 paper

NM_003482.4

p.A2121D

c.6362C>A