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

2 papers

NM_003482.4

p.Q4210fs

c.12628_12629fs

Surrounding Variants

2 papers

NM_003482.4

p.Q4210delFs

c.12630delC

1 paper

NM_003482.4

p.Q4202_Q4210del9

c.12604_12629del27

1 paper

NM_003482.4

p.Q4210*

c.12628C>T

4 papers

NM_003482.4

p.R4212W

c.12634C>T

1 paper

NM_003482.4

p.P4209Q

c.12626C>A

1 paper

NM_003482.4

p.R4212Q

c.12635G>A

1 paper

NM_003482.4

p.P4209S

c.12625C>T

1 paper

NM_003482.4

p.H4213Y

c.12637C>T

2 papers

NM_003482.4

p.N4208T

c.12623A>C

1 paper

NM_003482.4

p.H4213Q

c.12639C>G

1 paper

NM_003482.4

p.H4213Q

c.12639C>A

1 paper

NM_003482.4

p.L4214fs

c.12640_12641fs