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.L2358delFs

c.7073delA

Surrounding Variants

1 paper

NM_003482.4

p.P2360A

c.7078C>G

1 paper

NM_003482.4

p.P2353_P2360delFs

c.7058_7079del22

1 paper

NM_003482.4

p.Q2356R

c.7067A>G

3 papers

NM_003482.4

p.Q2356*

c.7066C>T

1 paper

NM_003482.4

p.S2361delFs

c.7081delA

1 paper

NM_003482.4

p.A2355fs

c.7063_7064fs

1 paper

NM_003482.4

p.A2355S

c.7063G>T

1 paper

NM_003482.4

p.P2354delFs

c.7062delA

4 papers

NM_003482.4

p.A2355fs

c.7063_7064fs

1 paper

NM_003482.4

p.P2354insFs

c.7061dupC

22 papers

NM_003482.4

p.P2354fs

c.7060_7061fs

12 papers

NM_003482.4

p.P2354delFs

c.7061delG