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

2 papers

NM_003482.4

p.R5439W

c.16315C>T

Surrounding Variants

4 papers

NM_003482.4

p.R5439G

c.16315C>G

1 paper

NM_003482.4

p.R5439P

c.16316G>C

1 paper

NM_003482.4

p.R5438Q

c.16313G>A

4 papers

NM_003482.4

p.E5440fs

c.16318_16319fs

3 papers

NM_003482.4

p.R5438W

c.16312C>T

4 papers

NM_003482.4

p.E5440delFs

c.16318delC

5 papers

NM_003482.4

p.N5437S

c.16310A>G

1 paper

NM_003482.4

p.I5427_A5436del10

c.16279_16307del30

1 paper

NM_003482.4

p.K5441fs

c.16321_16322fs

1 paper

NM_003482.4

p.A5436fs

c.16306_16307fs

1 paper

NM_003482.4

p.A5436_K5441Fs

c.16306_16322delinsCFs

1 paper

NM_003482.4

p.A5436T

c.16306G>A