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.G134Splc

c.400+1G>C

Surrounding Variants

2 papers

NM_003482.4

p.G134Splc

c.400+1G>T

5 papers

NM_003482.4

p.G134Splc

c.400+1G>A

3 papers

NM_003482.4

p.G134Splc

c.400+2T>C

1 paper

NM_003482.4

p.G134W

c.400G>T

1 paper

NM_003482.4

p.G134insFs

c.400_401insAG

1 paper

NM_003482.4

p.G133E

c.398G>A

1 paper

NM_003482.4

p.P132fs

c.394_395fs

1 paper

NM_003482.4

p.P132S

c.394C>T

1 paper

NM_003482.4

p.T125_E131delFs

c.375_393del19

1 paper

NM_003482.4

p.E131V

c.392A>T

1 paper

NM_003482.4

p.E131G

c.392A>G

1 paper

NM_003482.4

p.E131*

c.391G>T