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.E2270*

c.6808G>T

Surrounding Variants

2 papers

NM_003482.4

p.E2270K

c.6808G>A

1 paper

NM_003482.4

p.G2266_S2269del4

c.6796_6806del12

7 papers

NM_003482.4

p.P2271S

c.6811C>T

1 paper

NM_003482.4

p.A2268fs

c.6802_6803fs

1 paper

NM_003482.4

p.K2267N

c.6801A>T

1 paper

NM_003482.4

p.K2267N

c.6801A>C

6 papers

NM_003482.4

p.S2274L

c.6821C>T

2 papers

NM_003482.4

p.S2274*

c.6821C>A

1 paper

NM_003482.4

p.G2265fs

c.6793_6794fs

3 papers

NM_003482.4

p.G2265delFs

c.6794delC

1 paper

NM_003482.4

p.G2265fs

c.6793_6794fs

1 paper

NM_003482.4

p.G2264R

c.6790G>C