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.R2348T

c.7043G>C

Surrounding Variants

1 paper

NM_003482.4

p.R2348fs

c.7042_7043fs

1 paper

NM_003482.4

p.E2339_R2348delFs

c.7016_7043del28

1 paper

NM_003482.4

p.L2347L

c.7041A>T

10 papers

NM_003482.4

p.P2349L

c.7046C>T

5 papers

NM_003482.4

p.Q2350*

c.7048C>T

1 paper

NM_003482.4

p.Q2350delFs

c.7048delG

8 papers

NM_003482.4

p.G2346S

c.7036G>A

1 paper

NM_003482.4

p.G2344D

c.7031G>A

1 paper

NM_003482.4

p.P2352L

c.7055C>T

1 paper

NM_003482.4

p.P2353fs

c.7057_7058fs

3 papers

NM_003482.4

p.P2353L

c.7058C>T

1 paper

NM_003482.4

p.P2343L

c.7028C>T