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.Q2932delFs

c.8794_8795delTG

Surrounding Variants

1 paper

NM_003482.4

p.Q2932fs

c.8794_8795fs

1 paper

NM_003482.4

p.K2933fs

c.8797_8798fs

1 paper

NM_003482.4

p.Q2932_K2933delFs

c.8796_8797delTC

1 paper

NM_003482.4

p.P2931delFs

c.8792delG

1 paper

NM_003482.4

p.P2931fs

c.8791_8792fs

2 papers

NM_003482.4

p.P2930S

c.8788C>T

4 papers

NM_003482.4

p.S2935*

c.8804C>G

4 papers

NM_003482.4

p.S2935*

c.8804C>A

1 paper

NM_003482.4

p.L2929I

c.8785C>A

1 paper

NM_003482.4

p.P2937S

c.8809C>T

1 paper

NM_003482.4

p.P2937fs

c.8809_8810fs

1 paper

NM_003482.4

p.G2928C

c.8782G>T