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.K1885fs

c.5653_5654fs

Surrounding Variants

1 paper

NM_003482.4

p.K1885E

c.5653A>G

3 papers

NM_003482.4

p.P1884insFs

c.5652dupC

1 paper

NM_003482.4

p.K1885T

c.5654A>C

1 paper

NM_003482.4

p.P1884fs

c.5650_5651fs

1 paper

NM_003482.4

p.L1883insFs

c.5648_5649ins4

2 papers

NM_003482.4

p.L1883L

c.5647C>T

3 papers

NM_003482.4

p.E1882Splc

c.5645-1G>A

1 paper

NM_003482.4

p.S1888F

c.5663C>T

3 papers

NM_003482.4

p.E1882Splc

c.5645-2A>G

2 papers

NM_003482.4

p.E1882Splc

c.5645-3C>T

5 papers

NM_003482.4

p.Q1892*

c.5674C>T

5 papers

NM_003482.4

p.Q1893*

c.5677C>T