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.V4105fs

c.12313_12314fs

Surrounding Variants

1 paper

NM_003482.4

p.S4106C

c.12316A>T

1 paper

NM_003482.4

p.L4107M

c.12319C>A

1 paper

NM_003482.4

p.Q4104*

c.12310C>T

1 paper

NM_003482.4

p.Q4103_Q4104delins

c.12309_12310delinsTT

2 papers

NM_003482.4

p.Q4103*

c.12307C>T

4 papers

NM_003482.4

p.Q4102*

c.12304C>T

3 papers

NM_003482.4

p.Q4101P

c.12302A>C

1 paper

NM_003482.4

p.T4110fs

c.12328_12329fs

4 papers

NM_003482.4

p.T4110I

c.12329C>T

1 paper

NM_003482.4

p.Q4101*

c.12301C>T

2 papers

NM_003482.4

p.G4112D

c.12335G>A

1 paper

NM_003482.4

p.A4111del1

c.12331_12332delTGC