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.T2827I

c.8480C>T

Surrounding Variants

1 paper

NM_003482.4

p.T2827fs

c.8479_8480fs

1 paper

NM_003482.4

p.S2828P

c.8482T>C

1 paper

NM_003482.4

p.A2825_A2826insFs

c.8474_8477dup4

1 paper

NM_003482.4

p.A2826fs

c.8476_8477fs

1 paper

NM_003482.4

p.S2828insFs

c.8483_8484insT

1 paper

NM_003482.4

p.Q2815_A2825insFs

c.8445_8475dup31

2 papers

NM_003482.4

p.Q2821_A2825delFs

c.8463_8475del13

1 paper

NM_003482.4

p.M2829T

c.8486T>C

1 paper

NM_003482.4

p.M2829I

c.8487G>T

2 papers

NM_003482.4

p.M2829fs

c.8485_8486fs

30 papers

NM_003482.4

p.R2830*

c.8488C>T

4 papers

NM_003482.4

p.R2830Q

c.8489G>A