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

4 papers

NM_003482.4

p.C5133R

c.15397T>C

Surrounding Variants

1 paper

NM_003482.4

p.C5133S

c.15397T>A

1 paper

NM_003482.4

p.C5133fs

c.15397_15398fs

1 paper

NM_003482.4

p.C5133S

c.15398G>C

1 paper

NM_003482.4

p.C5133Y

c.15398G>A

1 paper

NM_003482.4

p.C5133fs

c.15397_15398fs

1 paper

NM_003482.4

p.C5133W

c.15399T>G

1 paper

NM_003482.4

p.C5133*

c.15399T>A

1 paper

NM_003482.4

p.L5132_C5133delFs

c.15394_15398del5

1 paper

NM_003482.4

p.M5131fs

c.15391_15392fs

3 papers

NM_003482.4

p.M5135V

c.15403A>G

1 paper

NM_003482.4

p.P5134_M5135delins

c.15402_15403delinsCG

1 paper

NM_003482.4

p.M5135delFs

c.15403delT