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.E4161fs

c.12481_12482fs

Surrounding Variants

1 paper

NM_003482.4

p.R4162W

c.12484C>T

1 paper

NM_003482.4

p.R4162_P4163insCG*

c.12484_12488ins9

1 paper

NM_003482.4

p.L4153_E4161delFs

c.12459_12483del25

1 paper

NM_003482.4

p.E4161delFs

c.12481delC

1 paper

NM_003482.4

p.E4161*

c.12481G>T

7 papers

NM_003482.4

p.R4162Q

c.12485G>A

1 paper

NM_003482.4

p.P4163S

c.12487C>T

1 paper

NM_003482.4

p.P4163L

c.12488C>T

1 paper

NM_003482.4

p.P4163fs

c.12487_12488fs

1 paper

NM_003482.4

p.M4159fs

c.12475_12476fs

1 paper

NM_003482.4

p.L4152_Q4157del0

c.12454_12471del18

5 papers

NM_003482.4

p.Q4157*

c.12469C>T