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.G4047G

c.12141G>C

Surrounding Variants

1 paper

NM_003482.4

p.G4047fs

c.12139_12140fs

6 papers

NM_003482.4

p.P4048L

c.12143C>T

1 paper

NM_003482.4

p.P4048fs

c.12142_12143fs

1 paper

NM_003482.4

p.L4049V

c.12145T>G

4 papers

NM_003482.4

p.G4046E

c.12137G>A

1 paper

NM_003482.4

p.H4044_Q4045delFs

c.12130_12134del5

1 paper

NM_003482.4

p.Q4045R

c.12134A>G

7 papers

NM_003482.4

p.Q4045*

c.12133C>T

1 paper

NM_003482.4

p.H4044fs

c.12130_12131fs

1 paper

NM_003482.4

p.A4050fs

c.12148_12149fs

1 paper

NM_003482.4

p.H4044fs

c.12130_12131fs

1 paper

NM_003482.4

p.P4041_S4042del2

c.12121_12125del6