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.P2596T

c.7786C>A

Surrounding Variants

2 papers

NM_003482.4

p.G2595R

c.7783G>C

2 papers

NM_003482.4

p.G2595R

c.7783G>A

1 paper

NM_003482.4

p.L2594insFs

c.7780dupC

1 paper

NM_003482.4

p.S2597fs

c.7789_7790fs

1 paper

NM_003482.4

p.G2599R

c.7795G>C

1 paper

NM_003482.4

p.G2599R

c.7795G>A

1 paper

NM_003482.4

p.G2599A

c.7796G>C

2 papers

NM_003482.4

p.G2599E

c.7796G>A

1 paper

NM_003482.4

p.S2590S

c.7770G>A

4 papers

NM_003482.4

p.S2590L

c.7769C>T

3 papers

NM_003482.4

p.S2590*

c.7769C>A

1 paper

NM_003482.4

p.P2589L

c.7766C>T