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.Q3745_H3746ins0

c.11235_11237dupGCA

Surrounding Variants

7 papers

NM_003482.4

p.Q3745del1

c.11233_11234delCTG

1 paper

NM_003482.4

p.H3746N

c.11236C>A

1 paper

NM_003482.4

p.L3747delFs

c.11241delA

1 paper

NM_003482.4

p.Q3738_L3747del10

c.11212_11240del30

3 papers

NM_003482.4

p.Q3745*

c.11233C>T

1 paper

NM_003482.4

p.Q3744*

c.11230C>T

3 papers

NM_003482.4

p.Q3740_Q3741del2

c.11218_11222del6

1 paper

NM_003482.4

p.Q3750*

c.11248C>T

2 papers

NM_003482.4

p.Q3743*

c.11227C>T

1 paper

NM_003482.4

p.Q3750R

c.11249A>G

1 paper

NM_003482.4

p.Q3742insFs

c.11225dupA

1 paper

NM_003482.4

p.Q3741_Q3742ins0

c.11223_11225dupACA