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.P2116_P2129del0

c.6348_6386del39

Surrounding Variants

1 paper

NM_003482.4

p.T2130A

c.6388A>G

1 paper

NM_003482.4

p.P2129S

c.6385C>T

1 paper

NM_003482.4

p.T2130N

c.6389C>A

1 paper

NM_003482.4

p.T2131P

c.6391A>C

1 paper

NM_003482.4

p.P2132fs

c.6394_6395fs

1 paper

NM_003482.4

p.I2126N

c.6377T>A

1 paper

NM_003482.4

p.A2133S

c.6397G>T

1 paper

NM_003482.4

p.A2133T

c.6397G>A

1 paper

NM_003482.4

p.A2133fs

c.6397_6398fs

1 paper

NM_003482.4

p.A2133delFs

c.6397delC

1 paper

NM_003482.4

p.I2126L

c.6376A>C

1 paper

NM_003482.4

p.L2135V

c.6403T>G