Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.F2494insFs

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
6 papers
NM_003482.4
p.F2494insFs
c.7481_7482insT
Surrounding Variants
3 papers
NM_003482.4
p.F2494fs
c.7480_7481fs
1 paper
NM_003482.4
p.P2495S
c.7483C>T
2 papers
NM_003482.4
p.G2493insFs
c.7478dupG
6 papers
NM_003482.4
p.G2493delFs
c.7479delC
5 papers
NM_003482.4
p.F2494fs
c.7480_7481fs
9 papers
NM_003482.4
p.G2493G
c.7479G>T
2 papers
NM_003482.4
p.G2493Fs
c.7478_7479delinsTFs
2 papers
NM_003482.4
p.G2493V
c.7478G>T
9 papers
NM_003482.4
p.G2493E
c.7478G>A
2 papers
NM_003482.4
p.A2496fs
c.7486_7487fs
1 paper
NM_003482.4
p.G2493R
c.7477G>C
1 paper
NM_003482.4
p.G2493R
c.7477G>A
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