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.A2205delFs

c.6613delC

Surrounding Variants

1 paper

NM_003482.4

p.A2205G

c.6614C>G

2 papers

NM_003482.4

p.A2205insFs

c.6613_6614insG

2 papers

NM_003482.4

p.A2205D

c.6614C>A

2 papers

NM_003482.4

p.A2205S

c.6613G>T

3 papers

NM_003482.4

p.A2205Fs

c.6613delinsAAFs

1 paper

NM_003482.4

p.A2205fs

c.6613_6614fs

3 papers

NM_003482.4

p.A2205fs

c.6613_6614fs

1 paper

NM_003482.4

p.P2206insFs

c.6617dupC

4 papers

NM_003482.4

p.A2207V

c.6620C>T

1 paper

NM_003482.4

p.T2203M

c.6608C>T

1 paper

NM_003482.4

p.A2207fs

c.6619_6620fs

1 paper

NM_003482.4

p.T2203A

c.6607A>G