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.P4172delFs

c.12515delG

Surrounding Variants

1 paper

NM_003482.4

p.P4172fs

c.12514_12515fs

1 paper

NM_003482.4

p.Q4171*

c.12511C>T

8 papers

NM_003482.4

p.P4170P

c.12510A>G

1 paper

NM_003482.4

p.P4170fs

c.12508_12509fs

1 paper

NM_003482.4

p.P4175L

c.12524C>T

1 paper

NM_003482.4

p.P4175R

c.12524C>G

7 papers

NM_003482.4

p.P4175Q

c.12524C>A

1 paper

NM_003482.4

p.P4170T

c.12508C>A

3 papers

NM_003482.4

p.G4176R

c.12526G>C

3 papers

NM_003482.4

p.G4176R

c.12526G>A

1 paper

NM_003482.4

p.L4179F

c.12535C>T

1 paper

NM_003482.4

p.Q4180fs

c.12538_12539fs