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

1–12 of 9624 variants

43 papers

NM_003482.4

p.Y2199delFs

c.6595delA

38 papers

NM_003482.4

p.R4198*

c.12592C>T

36 papers

NM_003482.4

p.R5179H

c.15536G>A

36 papers

NM_003482.4

p.R5432W

c.16294C>T

34 papers

NM_003482.4

p.R4484*

c.13450C>T

30 papers

NM_003482.4

p.R2830*

c.8488C>T

28 papers

NM_003482.4

p.R2771*

c.8311C>T

28 papers

NM_003482.4

p.R4904*

c.14710C>T

27 papers

NM_003482.4

p.R1903*

c.5707C>T

27 papers

NM_003482.4

p.R2099*

c.6295C>T

27 papers

NM_003482.4

p.R5027*

c.15079C>T

26 papers

NM_003482.4

p.R2645*

c.7933C>T