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.Y2299*

c.6897T>G

Surrounding Variants

1 paper

NM_003482.4

p.Y2299fs

c.6895_6896fs

1 paper

NM_003482.4

p.Y2299*

c.6897T>A

1 paper

NM_003482.4

p.P2301S

c.6901C>T

1 paper

NM_003482.4

p.P2297_S2298insFs

c.6891_6892ins4

1 paper

NM_003482.4

p.P2297S

c.6889C>T

1 paper

NM_003482.4

p.S2296F

c.6887C>T

1 paper

NM_003482.4

p.S2296_P2297insC

c.6886_6890ins3

1 paper

NM_003482.4

p.S2295S

c.6885C>A

1 paper

NM_003482.4

p.S2295F

c.6884C>T

1 paper

NM_003482.4

p.L2304M

c.6910C>A

1 paper

NM_003482.4

p.G2305S

c.6913G>A

2 papers

NM_003482.4

p.G2305D

c.6914G>A