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

3 papers

NM_003482.4

p.Q3915*

c.11743C>T

Surrounding Variants

2 papers

NM_003482.4

p.Q3910_L3912del3

c.11728_11735del9

2 papers

NM_003482.4

p.Q3914*

c.11740C>T

1 paper

NM_003482.4

p.Q3913delFs

c.11739delC

1 paper

NM_003482.4

p.Q3913fs

c.11737_11738fs

4 papers

NM_003482.4

p.Q3913*

c.11737C>T

2 papers

NM_003482.4

p.Q3917*

c.11749C>T

1 paper

NM_003482.4

p.Q3913E

c.11737C>G

11 papers

NM_003482.4

p.Q3910_L3912del0

c.11729_11734del6

1 paper

NM_003482.4

p.L3906_Q3918del0

c.11717_11752del36

1 paper

NM_003482.4

p.Q3918H

c.11754G>T

1 paper

NM_003482.4

p.Q3918H

c.11754G>C

2 papers

NM_003482.4

p.Q3919*

c.11755C>T