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

9 papers

NM_003482.4

p.Q4464*

c.13390C>T

Surrounding Variants

1 paper

NM_003482.4

p.Q4464H

c.13392G>T

1 paper

NM_003482.4

p.Q4464H

c.13392G>C

1 paper

NM_003482.4

p.L4462I

c.13384C>A

1 paper

NM_003482.4

p.L4461P

c.13382T>C

1 paper

NM_003482.4

p.L4467insFs

c.13399_13400ins4

2 papers

NM_003482.4

p.H4460fs

c.13378_13379fs

2 papers

NM_003482.4

p.H4460insFs

c.13378_13379insCA

1 paper

NM_003482.4

p.L4467H

c.13400T>A

1 paper

NM_003482.4

p.L4467_R4468insFs

c.13401_13402ins4

1 paper

NM_003482.4

p.L4467fs

c.13399_13400fs

1 paper

NM_003482.4

p.H4460delFs

c.13378delG

1 paper

NM_003482.4

p.R4468fs

c.13402_13403fs