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.Q3845*

c.11533C>T

Surrounding Variants

1 paper

NM_003482.4

p.G3846S

c.11536G>A

1 paper

NM_003482.4

p.G3844S

c.11530G>A

1 paper

NM_003482.4

p.Q3843Q

c.11529G>A

4 papers

NM_003482.4

p.Q3843*

c.11527C>T

1 paper

NM_003482.4

p.L3847F

c.11539C>T

1 paper

NM_003482.4

p.V3834_G3846del13

c.11500_11537del39

4 papers

NM_003482.4

p.Q3842*

c.11524C>T

1 paper

NM_003482.4

p.A3841fs

c.11521_11522fs

1 paper

NM_003482.4

p.L3840insFs

c.11519dupT

1 paper

NM_003482.4

p.L3840fs

c.11518_11519fs

1 paper

NM_003482.4

p.G3849A

c.11546G>C

1 paper

NM_003482.4

p.Q3839fs

c.11515_11516fs