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

17 papers

NM_003482.4

p.P2210L

c.6629C>T

Surrounding Variants

1 paper

NM_003482.4

p.P2210fs

c.6628_6629fs

2 papers

NM_003482.4

p.P2210delFs

c.6629delG

2 papers

NM_003482.4

p.P2210fs

c.6628_6629fs

2 papers

NM_003482.4

p.P2210S

c.6628C>T

7 papers

NM_003482.4

p.Q2208*

c.6622C>T

1 paper

NM_003482.4

p.A2207_Q2208delins

c.6621_6622delinsTT

1 paper

NM_003482.4

p.A2207fs

c.6619_6620fs

1 paper

NM_003482.4

p.G2213fs

c.6637_6638fs

2 papers

NM_003482.4

p.G2213D

c.6638G>A

4 papers

NM_003482.4

p.A2207V

c.6620C>T

1 paper

NM_003482.4

p.P2206insFs

c.6617dupC

2 papers

NM_003482.4

p.A2214T

c.6640G>A