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

20 papers

NM_003482.4

p.R5086*

c.15256C>T

Surrounding Variants

5 papers

NM_003482.4

p.R5086Q

c.15257G>A

1 paper

NM_003482.4

p.H5085Q

c.15255C>G

1 paper

NM_003482.4

p.H5085Q

c.15255C>A

1 paper

NM_003482.4

p.L5084P

c.15251T>C

1 paper

NM_003482.4

p.L5084fs

c.15250_15251fs

1 paper

NM_003482.4

p.V5082G

c.15245T>G

1 paper

NM_003482.4

p.E5081D

c.15243G>T

1 paper

NM_003482.4

p.E5081D

c.15243G>C

1 paper

NM_003482.4

p.T5090delFs

c.15268delT

1 paper

NM_003482.4

p.T5090fs

c.15268_15269fs

1 paper

NM_003482.4

p.V5080delFs

c.15239_15240delCA

1 paper

NM_003482.4

p.V5080fs

c.15238_15239fs