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

2 papers

NM_003482.4

p.V2909fs

c.8725_8726fs

Surrounding Variants

1 paper

NM_003482.4

p.V2909V

c.8727A>G

2 papers

NM_003482.4

p.S2910fs

c.8728_8729fs

1 paper

NM_003482.4

p.S2910R

c.8728A>C

1 paper

NM_003482.4

p.S2910I

c.8729G>T

1 paper

NM_003482.4

p.S2910R

c.8730T>G

1 paper

NM_003482.4

p.S2910R

c.8730T>A

1 paper

NM_003482.4

p.E2911*

c.8731G>T

1 paper

NM_003482.4

p.E2911K

c.8731G>A

5 papers

NM_003482.4

p.V2909_S2910delFs

c.8727_8730del4

1 paper

NM_003482.4

p.E2911delFs

c.8731delC

1 paper

NM_003482.4

p.E2911D

c.8733G>T

1 paper

NM_003482.4

p.E2911fs

c.8731_8732fs