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.F2160_L2161delFs

c.6480_6483del4

Surrounding Variants

1 paper

NM_003482.4

p.L2161delFs

c.6483delG

1 paper

NM_003482.4

p.L2161F

c.6481C>T

1 paper

NM_003482.4

p.F2160L

c.6480C>G

1 paper

NM_003482.4

p.F2160L

c.6480C>A

1 paper

NM_003482.4

p.F2160V

c.6478T>G

1 paper

NM_003482.4

p.F2160L

c.6478T>C

1 paper

NM_003482.4

p.F2160fs

c.6478_6479fs

1 paper

NM_003482.4

p.P2165S

c.6493C>T

1 paper

NM_003482.4

p.E2158*

c.6472G>T

1 paper

NM_003482.4

p.Q2166*

c.6496C>T

2 papers

NM_003482.4

p.G2157V

c.6470G>T

1 paper

NM_003482.4

p.P2156fs

c.6466_6467fs