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.R2471Q

c.7412G>A

Surrounding Variants

2 papers

NM_003482.4

p.R2471delFs

c.7411delG

20 papers

NM_003482.4

p.R2471*

c.7411C>T

1 paper

NM_003482.4

p.R2471fs

c.7411_7412fs

2 papers

NM_003482.4

p.P2472A

c.7414C>G

1 paper

NM_003482.4

p.P2470fs

c.7408_7409fs

1 paper

NM_003482.4

p.P2470fs

c.7408_7409fs

1 paper

NM_003482.4

p.Q2473*

c.7417C>T

2 papers

NM_003482.4

p.P2469_P2470insFs

c.7407_7408insT

1 paper

NM_003482.4

p.Q2473R

c.7418A>G

1 paper

NM_003482.4

p.Q2473P

c.7418A>C

2 papers

NM_003482.4

p.P2469S

c.7405C>T

2 papers

NM_003482.4

p.H2467P

c.7400A>C