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.V3616fs

c.10846_10847fs

Surrounding Variants

1 paper

NM_003482.4

p.A3618P

c.10852G>C

1 paper

NM_003482.4

p.A3615T

c.10843G>A

1 paper

NM_003482.4

p.L3619F

c.10855C>T

8 papers

NM_003482.4

p.S3614*

c.10841C>G

1 paper

NM_003482.4

p.L3619V

c.10855C>G

6 papers

NM_003482.4

p.S3614*

c.10841C>A

1 paper

NM_003482.4

p.L3619R

c.10856T>G

2 papers

NM_003482.4

p.Q3612del1

c.10834_10835delCTG

1 paper

NM_003482.4

p.S3620insFs

c.10858dupA

1 paper

NM_003482.4

p.Q3612H

c.10836G>T

1 paper

NM_003482.4

p.Q3612H

c.10836G>C

9 papers

NM_003482.4

p.Q3612Q

c.10836G>A