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.P2437S

c.7309C>T

Surrounding Variants

1 paper

NM_003482.4

p.C2436_P2437insFs

c.7308_7309insT

2 papers

NM_003482.4

p.C2436fs

c.7306_7307fs

1 paper

NM_003482.4

p.C2436Fs

c.7306_7308delinsGFs

4 papers

NM_003482.4

p.C2436insFs

c.7307_7308insT

1 paper

NM_003482.4

p.C2436insFs

c.7306_7307insTT

1 paper

NM_003482.4

p.C2436delFs

c.7306delA

1 paper

NM_003482.4

p.P2437P

c.7311A>C

3 papers

NM_003482.4

p.S2438fs

c.7312_7313fs

1 paper

NM_003482.4

p.E2433_F2435insFs

c.7297_7304dup8

1 paper

NM_003482.4

p.F2435L

c.7305T>G

1 paper

NM_003482.4

p.F2435L

c.7305T>A

3 papers

NM_003482.4

p.S2438*

c.7313C>G