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

2 papers

NM_003482.4

p.P5141fs

c.15421_15422fs

Surrounding Variants

1 paper

NM_003482.4

p.P5141S

c.15421C>T

2 papers

NM_003482.4

p.G5140insFs

c.15420dupG

1 paper

NM_003482.4

p.G5140V

c.15419G>T

1 paper

NM_003482.4

p.C5142R

c.15424T>C

1 paper

NM_003482.4

p.C5142fs

c.15424_15425fs

1 paper

NM_003482.4

p.G5140R

c.15418G>C

1 paper

NM_003482.4

p.G5140R

c.15418G>A

1 paper

NM_003482.4

p.G5140fs

c.15418_15419fs

1 paper

NM_003482.4

p.C5142Y

c.15425G>A

1 paper

NM_003482.4

p.C5142delFs

c.15424delA

1 paper

NM_003482.4

p.E5143delins

c.15427_15428delinsTT

3 papers

NM_003482.4

p.M5135_H5136del2

c.15403_15407del6