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.S3986_P3987delFs

c.11958_11959delGA

Surrounding Variants

1 paper

NM_003482.4

p.S3986fs

c.11956_11957fs

10 papers

NM_003482.4

p.Q3988*

c.11962C>T

2 papers

NM_003482.4

p.S3986C

c.11957C>G

1 paper

NM_003482.4

p.S3986Y

c.11957C>A

1 paper

NM_003482.4

p.Q3989*

c.11965C>T

1 paper

NM_003482.4

p.Q3972_P3987del16

c.11914_11960del48

3 papers

NM_003482.4

p.Q3990*

c.11968C>T

1 paper

NM_003482.4

p.L3984delFs

c.11951delA

1 paper

NM_003482.4

p.L3984S

c.11951T>C

1 paper

NM_003482.4

p.Q3991*

c.11971C>T

1 paper

NM_003482.4

p.T3983A

c.11947A>G

1 paper

NM_003482.4

p.Q3991delFs

c.11973delC