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.G1913fs

c.5737_5738fs

Surrounding Variants

1 paper

NM_003482.4

p.G1913V

c.5738G>T

1 paper

NM_003482.4

p.P1912L

c.5735C>T

1 paper

NM_003482.4

p.G1913_L1914ins5

c.5739_5740ins15

1 paper

NM_003482.4

p.T1911N

c.5732C>A

1 paper

NM_003482.4

p.G1913_L1914Fs

c.5738_5742delinsTCTTFs

1 paper

NM_003482.4

p.G1910fs

c.5728_5729fs

1 paper

NM_003482.4

p.G1916S

c.5746G>A

1 paper

NM_003482.4

p.C1909*

c.5727T>A

1 paper

NM_003482.4

p.G1908fs

c.5722_5723fs

1 paper

NM_003482.4

p.G1908D

c.5723G>A

1 paper

NM_003482.4

p.G1908S

c.5722G>A

3 papers

NM_003482.4

p.R1903_L1907del5

c.5707_5720del15