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

38 papers

NM_003482.4

p.R4198*

c.12592C>T

Surrounding Variants

1 paper

NM_003482.4

p.R4198L

c.12593G>T

1 paper

NM_003482.4

p.R4198Q

c.12593G>A

2 papers

NM_003482.4

p.A4199S

c.12595G>T

4 papers

NM_003482.4

p.Q4200*

c.12598C>T

1 paper

NM_003482.4

p.G4195fs

c.12583_12584fs

1 paper

NM_003482.4

p.G4195delFs

c.12584delC

1 paper

NM_003482.4

p.G4195D

c.12584G>A

1 paper

NM_003482.4

p.V4194fs

c.12580_12581fs

1 paper

NM_003482.4

p.L4201L

c.12603C>T

1 paper

NM_003482.4

p.Q4202fs

c.12604_12605fs

1 paper

NM_003482.4

p.Q4202P

c.12605A>C

1 paper

NM_003482.4

p.Q4202insFs

c.12604dupC