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

2 papers

NM_003482.4

p.P2407T

c.7219C>A

Surrounding Variants

1 paper

NM_003482.4

p.P2407L

c.7220C>T

1 paper

NM_003482.4

p.L2398_D2406delFs

c.7194_7216del23

1 paper

NM_003482.4

p.P2407delFs

c.7220_7221delAG

1 paper

NM_003482.4

p.D2406N

c.7216G>A

2 papers

NM_003482.4

p.F2408insFs

c.7223dupT

1 paper

NM_003482.4

p.C2395_S2405Fs

c.7183_7214delinsACTFs

1 paper

NM_003482.4

p.S2409_R2410insG

c.7225_7229ins3

1 paper

NM_003482.4

p.S2409fs

c.7225_7226fs

1 paper

NM_003482.4

p.S2409fs

c.7225_7226fs

22 papers

NM_003482.4

p.R2410*

c.7228C>T

1 paper

NM_003482.4

p.R2410P

c.7229G>C

1 paper

NM_003482.4

p.R2410Q

c.7229G>A