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.A2169T

c.6505G>A

Surrounding Variants

1 paper

NM_003482.4

p.A2169P

c.6505G>C

1 paper

NM_003482.4

p.A2169fs

c.6505_6506fs

2 papers

NM_003482.4

p.A2169V

c.6506C>T

1 paper

NM_003482.4

p.P2168P

c.6504C>T

1 paper

NM_003482.4

p.P2168L

c.6503C>T

1 paper

NM_003482.4

p.Q2170*

c.6508C>T

2 papers

NM_003482.4

p.Q2170E

c.6508C>G

1 paper

NM_003482.4

p.Q2170K

c.6508C>A

1 paper

NM_003482.4

p.Q2170delFs

c.6508delG

1 paper

NM_003482.4

p.Q2170fs

c.6508_6509fs

1 paper

NM_003482.4

p.V2171V

c.6513G>C

1 paper

NM_003482.4

p.Q2166*

c.6496C>T