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.Q2109K

c.6325C>A

Surrounding Variants

4 papers

NM_003482.4

p.Q2109*

c.6325C>T

3 papers

NM_003482.4

p.P2108insFs

c.6323dupC

1 paper

NM_003482.4

p.P2108fs

c.6322_6323fs

1 paper

NM_003482.4

p.Q2109L

c.6326A>T

1 paper

NM_003482.4

p.Q2109fs

c.6325_6326fs

4 papers

NM_003482.4

p.P2108L

c.6323C>T

1 paper

NM_003482.4

p.P2110P

c.6330A>G

1 paper

NM_003482.4

p.P2110fs

c.6328_6329fs

1 paper

NM_003482.4

p.G2111R

c.6331G>C

1 paper

NM_003482.4

p.G2111R

c.6331G>A

1 paper

NM_003482.4

p.P2107A

c.6319C>G

2 papers

NM_003482.4

p.P2107T

c.6319C>A