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.Q3623*

c.10867C>T

Surrounding Variants

1 paper

NM_003482.4

p.Q3623R

c.10868A>G

1 paper

NM_003482.4

p.Q3623H

c.10869G>T

1 paper

NM_003482.4

p.Q3623fs

c.10867_10868fs

1 paper

NM_003482.4

p.Q3623H

c.10869G>C

1 paper

NM_003482.4

p.P3621L

c.10862C>T

1 paper

NM_003482.4

p.P3621R

c.10862C>G

1 paper

NM_003482.4

p.P3625S

c.10873C>T

1 paper

NM_003482.4

p.P3625L

c.10874C>T

1 paper

NM_003482.4

p.P3625R

c.10874C>G

1 paper

NM_003482.4

p.S3620fs

c.10858_10859fs

1 paper

NM_003482.4

p.S3620insFs

c.10858dupA

2 papers

NM_003482.4

p.R3626W

c.10876C>T