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.C5109W

c.15327C>G

Surrounding Variants

1 paper

NM_003482.4

p.C5109*

c.15327C>A

11 papers

NM_003482.4

p.C5109F

c.15326G>T

1 paper

NM_003482.4

p.C5109G

c.15325T>G

1 paper

NM_003482.4

p.C5109R

c.15325T>C

1 paper

NM_003482.4

p.N5111fs

c.15331_15332fs

1 paper

NM_003482.4

p.R5108H

c.15323G>A

1 paper

NM_003482.4

p.P5110delFs

c.15330delG

1 paper

NM_003482.4

p.C5109_P5110delFs

c.15327_15330del4

2 papers

NM_003482.4

p.R5108C

c.15322C>T

1 paper

NM_003482.4

p.N5111fs

c.15331_15332fs

1 paper

NM_003482.4

p.R5106fs

c.15316_15317fs

1 paper

NM_003482.4

p.Y5113fs

c.15337_15338fs