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.A3051P

c.9151G>C

Surrounding Variants

1 paper

NM_003482.4

p.A3051T

c.9151G>A

1 paper

NM_003482.4

p.L3049V

c.9145C>G

1 paper

NM_003482.4

p.T3053S

c.9157A>T

1 paper

NM_003482.4

p.T3053I

c.9158C>T

1 paper

NM_003482.4

p.T3053S

c.9158C>G

1 paper

NM_003482.4

p.D3048fs

c.9142_9143fs

1 paper

NM_003482.4

p.D3048G

c.9143A>G

2 papers

NM_003482.4

p.D3048H

c.9142G>C

1 paper

NM_003482.4

p.D3054insFs

c.9160dupG

2 papers

NM_003482.4

p.D3054fs

c.9160_9161fs

1 paper

NM_003482.4

p.D3054_P3055insFs

c.9162_9163ins4

3 papers

NM_003482.4

p.P3055fs

c.9163_9164fs