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.R5174W

c.15520C>T

Surrounding Variants

1 paper

NM_003482.4

p.E5173fs

c.15517_15518fs

1 paper

NM_003482.4

p.R5174fs

c.15520_15521fs

2 papers

NM_003482.4

p.E5173*

c.15517G>T

1 paper

NM_003482.4

p.E5173fs

c.15517_15518fs

1 paper

NM_003482.4

p.G5172fs

c.15514_15515fs

1 paper

NM_003482.4

p.G5172V

c.15515G>T

1 paper

NM_003482.4

p.R5174_L5175insFs

c.15522_15525dup4

1 paper

NM_003482.4

p.H5176fs

c.15526_15527fs

1 paper

NM_003482.4

p.H5176insFs

c.15527dupA

1 paper

NM_003482.4

p.R5171W

c.15511C>T

2 papers

NM_003482.4

p.M5177V

c.15529A>G

4 papers

NM_003482.4

p.Q5170*

c.15508C>T