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

3 papers

NM_003482.4

p.Q5195*

c.15583C>T

Surrounding Variants

1 paper

NM_003482.4

p.M5196K

c.15587T>A

1 paper

NM_003482.4

p.M5196I

c.15588G>T

1 paper

NM_003482.4

p.A5197S

c.15589G>T

1 paper

NM_003482.4

p.A5197V

c.15590C>T

1 paper

NM_003482.4

p.L5191P

c.15572T>C

2 papers

NM_003482.4

p.D5198fs

c.15592_15593fs

1 paper

NM_003482.4

p.D5198_F5199insFs

c.15594_15595insA

1 paper

NM_003482.4

p.F5199C

c.15596T>G

2 papers

NM_003482.4

p.Q5190*

c.15568C>T

1 paper

NM_003482.4

p.H5200P

c.15599A>C

1 paper

NM_003482.4

p.H5200fs

c.15598_15599fs

1 paper

NM_003482.4

p.Q5195_H5200delFs

c.15584_15599del16