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.E9_D10insFs

c.27_28ins4

Surrounding Variants

1 paper

NM_003482.4

p.D10ins2

c.28_29ins6

1 paper

NM_003482.4

p.D10H

c.28G>C

1 paper

NM_003482.4

p.E9K

c.25G>A

3 papers

NM_003482.4

p.G8insFs

c.22dupG

1 paper

NM_003482.4

p.A7del1

c.19_20delAGC

1 paper

NM_003482.4

p.K11E

c.31A>G

1 paper

NM_003482.4

p.K11insFs

c.31dupA

1 paper

NM_003482.4

p.D12H

c.34G>C

1 paper

NM_003482.4

p.D12N

c.34G>A

2 papers

NM_003482.4

p.A7V

c.20C>T

1 paper

NM_003482.4

p.A7D

c.20C>A

1 paper

NM_003482.4

p.L6_A7delFs

c.18_19delCC