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.K1896insFs

c.5686dupA

Surrounding Variants

1 paper

NM_003482.4

p.K1896N

c.5688G>T

1 paper

NM_003482.4

p.K1896N

c.5688G>C

1 paper

NM_003482.4

p.K1896R

c.5687A>G

1 paper

NM_003482.4

p.K1896E

c.5686A>G

1 paper

NM_003482.4

p.D1897E

c.5691T>G

1 paper

NM_003482.4

p.D1897E

c.5691T>A

5 papers

NM_003482.4

p.Q1893*

c.5677C>T

1 paper

NM_003482.4

p.V1898_G1900del0

c.5694_5699del6

5 papers

NM_003482.4

p.Q1892*

c.5674C>T

1 paper

NM_003482.4

p.S1901F

c.5702C>T

1 paper

NM_003482.4

p.E1902Q

c.5704G>C

27 papers

NM_003482.4

p.R1903*

c.5707C>T