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.Y2627*

c.7881C>G

Surrounding Variants

1 paper

NM_003482.4

p.Y2627*

c.7881C>A

1 paper

NM_003482.4

p.Y2627delFs

c.7879delA

1 paper

NM_003482.4

p.L2628Q

c.7883T>A

1 paper

NM_003482.4

p.Y2627fs

c.7879_7880fs

1 paper

NM_003482.4

p.P2626L

c.7877C>T

1 paper

NM_003482.4

p.S2629Y

c.7886C>A

1 paper

NM_003482.4

p.H2630fs

c.7888_7889fs

1 paper

NM_003482.4

p.H2630delFs

c.7888delG

1 paper

NM_003482.4

p.S2624fs

c.7870_7871fs

1 paper

NM_003482.4

p.G2631*

c.7891G>T

1 paper

NM_003482.4

p.G2631E

c.7892G>A

2 papers

NM_003482.4

p.D2622N

c.7864G>A