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.P2276L

c.6827C>T

Surrounding Variants

1 paper

NM_003482.4

p.P2276delFs

c.6827delG

2 papers

NM_003482.4

p.P2276fs

c.6826_6827fs

1 paper

NM_003482.4

p.P2277T

c.6829C>A

6 papers

NM_003482.4

p.S2274L

c.6821C>T

2 papers

NM_003482.4

p.S2274*

c.6821C>A

6 papers

NM_003482.4

p.G2279E

c.6836G>A

1 paper

NM_003482.4

p.E2280*

c.6838G>T

1 paper

NM_003482.4

p.E2280delFs

c.6838delC

1 paper

NM_003482.4

p.E2280D

c.6840G>T

1 paper

NM_003482.4

p.E2280fs

c.6838_6839fs

1 paper

NM_003482.4

p.E2280D

c.6840G>C

1 paper

NM_003482.4

p.S2281insFs

c.6841_6842ins19