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.Q4079E

c.12235C>G

Surrounding Variants

1 paper

NM_003482.4

p.V4078fs

c.12232_12233fs

1 paper

NM_003482.4

p.L4077insFs

c.12231dupT

1 paper

NM_003482.4

p.L4077R

c.12230T>G

6 papers

NM_003482.4

p.Q4081*

c.12241C>T

1 paper

NM_003482.4

p.L4077F

c.12229C>T

1 paper

NM_003482.4

p.Q4081P

c.12242A>C

1 paper

NM_003482.4

p.Q4081delFs

c.12241delG

1 paper

NM_003482.4

p.Q4083*

c.12247C>T

1 paper

NM_003482.4

p.L4075F

c.12223C>T

1 paper

NM_003482.4

p.L4075I

c.12223C>A

1 paper

NM_003482.4

p.Q4083fs

c.12247_12248fs

1 paper

NM_003482.4

p.Q4074delFs

c.12220delG