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.A5100fs

c.15298_15299fs

Surrounding Variants

1 paper

NM_003482.4

p.A5100V

c.15299C>T

1 paper

NM_003482.4

p.G5099D

c.15296G>A

1 paper

NM_003482.4

p.T5098fs

c.15292_15293fs

1 paper

NM_003482.4

p.T5098fs

c.15292_15293fs

2 papers

NM_003482.4

p.T5098P

c.15292A>C

2 papers

NM_003482.4

p.C5104R

c.15310T>C

1 paper

NM_003482.4

p.R5097Q

c.15290G>A

1 paper

NM_003482.4

p.C5104F

c.15311G>T

3 papers

NM_003482.4

p.C5104Y

c.15311G>A

18 papers

NM_003482.4

p.R5097*

c.15289C>T

4 papers

NM_003482.4

p.Q5096*

c.15286C>T

1 paper

NM_003482.4

p.C5095S

c.15284G>C