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.Y5210_A5212delFs

c.15628_15635del8

Surrounding Variants

1 paper

NM_003482.4

p.A5212P

c.15634G>C

1 paper

NM_003482.4

p.A5212T

c.15634G>A

2 papers

NM_003482.4

p.T5213M

c.15638C>T

2 papers

NM_003482.4

p.T5213fs

c.15637_15638fs

16 papers

NM_003482.4

p.R5214C

c.15640C>T

2 papers

NM_003482.4

p.R5214G

c.15640C>G

1 paper

NM_003482.4

p.T5213delFs

c.15639delC

3 papers

NM_003482.4

p.R5214L

c.15641G>T

2 papers

NM_003482.4

p.R5214P

c.15641G>C

19 papers

NM_003482.4

p.R5214H

c.15641G>A

4 papers

NM_003482.4

p.E5211K

c.15631G>A

1 paper

NM_003482.4

p.Y5210Y

c.15630C>T