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.P4506fs

c.13516_13517fs

Surrounding Variants

1 paper

NM_003482.4

p.S4507fs

c.13519_13520fs

2 papers

NM_003482.4

p.P4506delFs

c.13518delG

3 papers

NM_003482.4

p.S4507fs

c.13519_13520fs

1 paper

NM_003482.4

p.G4504G

c.13512T>C

1 paper

NM_003482.4

p.L4502_G4504delFs

c.13506_13510del5

1 paper

NM_003482.4

p.E4510*

c.13528G>T

1 paper

NM_003482.4

p.E4510Q

c.13528G>C

1 paper

NM_003482.4

p.Q4503fs

c.13507_13508fs

5 papers

NM_003482.4

p.Q4503*

c.13507C>T

1 paper

NM_003482.4

p.K4501fs

c.13501_13502fs

1 paper

NM_003482.4

p.Q4500fs

c.13498_13499fs

2 papers

NM_003482.4

p.Q4500*

c.13498C>T