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.M3777I

c.11331G>T

Surrounding Variants

1 paper

NM_003482.4

p.M3777I

c.11331G>C

1 paper

NM_003482.4

p.M3777I

c.11331G>A

1 paper

NM_003482.4

p.M3777R

c.11330T>G

2 papers

NM_003482.4

p.P3778S

c.11332C>T

1 paper

NM_003482.4

p.P3779fs

c.11335_11336fs

1 paper

NM_003482.4

p.P3779Fs

c.11335_11337delinsTCFs

1 paper

NM_003482.4

p.G3775D

c.11324G>A

1 paper

NM_003482.4

p.S3780C

c.11338A>T

1 paper

NM_003482.4

p.G3775S

c.11323G>A

2 papers

NM_003482.4

p.S3781N

c.11342G>A

3 papers

NM_003482.4

p.Q3774*

c.11320C>T

1 paper

NM_003482.4

p.P3773_Q3774insACA

c.11317_11321ins9