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

28 papers

NM_003482.4

p.R4904*

c.14710C>T

Surrounding Variants

1 paper

NM_003482.4

p.R4904G

c.14710C>G

1 paper

NM_003482.4

p.R4904Q

c.14711G>A

1 paper

NM_003482.4

p.V4903M

c.14707G>A

1 paper

NM_003482.4

p.Q4905*

c.14713C>T

1 paper

NM_003482.4

p.L4906F

c.14716C>T

1 paper

NM_003482.4

p.L4901fs

c.14701_14702fs

3 papers

NM_003482.4

p.L4901V

c.14701C>G

1 paper

NM_003482.4

p.N4900delFs

c.14700delA

1 paper

NM_003482.4

p.S4907W

c.14720C>G

1 paper

NM_003482.4

p.S4907*

c.14720C>A

1 paper

NM_003482.4

p.A4908V

c.14723C>T

1 paper

NM_003482.4

p.A4908delFs

c.14722delC