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.E2081_T2088del8

c.6241_6263del24

Surrounding Variants

3 papers

NM_003482.4

p.K2089*

c.6265A>T

1 paper

NM_003482.4

p.K2089Q

c.6265A>C

1 paper

NM_003482.4

p.T2088delFs

c.6264delG

2 papers

NM_003482.4

p.K2089fs

c.6265_6266fs

1 paper

NM_003482.4

p.T2088I

c.6263C>T

1 paper

NM_003482.4

p.S2082_K2089insFs

c.6245_6266dup22

1 paper

NM_003482.4

p.K2086_V2090delFs

c.6257_6269del13

3 papers

NM_003482.4

p.Q2087*

c.6259C>T

1 paper

NM_003482.4

p.G2091G

c.6273C>T

1 paper

NM_003482.4

p.D2092N

c.6274G>A

1 paper

NM_003482.4

p.K2086fs

c.6256_6257fs

1 paper

NM_003482.4

p.N2085K

c.6255C>G