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.K4024fs

c.12070_12071fs

Surrounding Variants

1 paper

NM_003482.4

p.E4025*

c.12073G>T

1 paper

NM_003482.4

p.K4024E

c.12070A>G

1 paper

NM_003482.4

p.G4023insFs

c.12068_12069insG

1 paper

NM_003482.4

p.G4023fs

c.12067_12068fs

1 paper

NM_003482.4

p.G4023D

c.12068G>A

5 papers

NM_003482.4

p.Q4026*

c.12076C>T

1 paper

NM_003482.4

p.Q4026E

c.12076C>G

1 paper

NM_003482.4

p.T4022_G4023insFs

c.12066_12067ins4

1 paper

NM_003482.4

p.Q4026H

c.12078A>T

1 paper

NM_003482.4

p.Q4026H

c.12078A>C

1 paper

NM_003482.4

p.N4027D

c.12079A>G

1 paper

NM_003482.4

p.N4027_T4028ins14

c.12079_12083ins42