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.P4916Q

c.14747C>A

Surrounding Variants

7 papers

NM_003482.4

p.P4916L

c.14747C>T

1 paper

NM_003482.4

p.P4916T

c.14746C>A

1 paper

NM_003482.4

p.P4914delFs

c.14742delG

1 paper

NM_003482.4

p.P4918fs

c.14752_14753fs

1 paper

NM_003482.4

p.P4914fs

c.14740_14741fs

1 paper

NM_003482.4

p.P4914L

c.14741C>T

4 papers

NM_003482.4

p.P4918fs

c.14752_14753fs

1 paper

NM_003482.4

p.P4918P

c.14754T>C

6 papers

NM_003482.4

p.P4918delFs

c.14753delG

1 paper

NM_003482.4

p.P4918insFs

c.14753_14754ins7

1 paper

NM_003482.4

p.S4919P

c.14755T>C

1 paper

NM_003482.4

p.S4919F

c.14756C>T