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.N2977D

c.8929A>G

Surrounding Variants

2 papers

NM_003482.4

p.N2977S

c.8930A>G

1 paper

NM_003482.4

p.N2977K

c.8931T>G

1 paper

NM_003482.4

p.N2977K

c.8931T>A

1 paper

NM_003482.4

p.P2978L

c.8933C>T

1 paper

NM_003482.4

p.R2975fs

c.8923_8924fs

1 paper

NM_003482.4

p.P2978H

c.8933C>A

1 paper

NM_003482.4

p.P2978P

c.8934T>C

2 papers

NM_003482.4

p.R2975H

c.8924G>A

2 papers

NM_003482.4

p.R2975C

c.8923C>T

2 papers

NM_003482.4

p.A2980fs

c.8938_8939fs

3 papers

NM_003482.4

p.A2980V

c.8939C>T

2 papers

NM_003482.4

p.A2980delFs

c.8938delC