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.T2191M

c.6572C>T

Surrounding Variants

2 papers

NM_003482.4

p.T2191fs

c.6571_6572fs

1 paper

NM_003482.4

p.T2191T

c.6573G>A

1 paper

NM_003482.4

p.T2191fs

c.6571_6572fs

1 paper

NM_003482.4

p.T2191A

c.6571A>G

2 papers

NM_003482.4

p.P2190S

c.6568C>T

3 papers

NM_003482.4

p.P2193L

c.6578C>T

1 paper

NM_003482.4

p.F2189V

c.6565T>G

2 papers

NM_003482.4

p.R2188fs

c.6562_6563fs

2 papers

NM_003482.4

p.R2188L

c.6563G>T

3 papers

NM_003482.4

p.R2188H

c.6563G>A

1 paper

NM_003482.4

p.R2188delFs

c.6562delG

5 papers

NM_003482.4

p.R2188C

c.6562C>T