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.Q4364*

c.13090C>T

Surrounding Variants

1 paper

NM_003482.4

p.Q4364L

c.13091A>T

1 paper

NM_003482.4

p.A4366V

c.13097C>T

1 paper

NM_003482.4

p.A4366insFs

c.13096_13097insG

1 paper

NM_003482.4

p.A4366fs

c.13096_13097fs

1 paper

NM_003482.4

p.A4361T

c.13081G>A

1 paper

NM_003482.4

p.T4368fs

c.13102_13103fs

1 paper

NM_003482.4

p.A4363_D4367del5

c.13087_13100del15

1 paper

NM_003482.4

p.T4368insFs

c.13102dupA

3 papers

NM_003482.4

p.S4359L

c.13076C>T

2 papers

NM_003482.4

p.S4359*

c.13076C>G

3 papers

NM_003482.4

p.S4359*

c.13076C>A

1 paper

NM_003482.4

p.L4369*

c.13106T>A