Varaico: Literature-Extracted Genetic Variants

MED12

1,019 papers

RefSeq Summary

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Me...

Pfam Domains

Med12aa 104–161UCSCTranscription mediator complex subunit Med12

Med12-LCEWAVaa 286–757UCSCEukaryotic Mediator 12 subunit domain

Med12-PQLaa 1819–2022UCSCEukaryotic Mediator 12 catenin-binding domain

Gene Aliases

HGNC Name

mediator complex subunit 12

HGNC Previous Symbols

TNRC11; FGS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

79 papers

NM_005120.3

p.G44C

c.130G>T

Surrounding Variants

98 papers

NM_005120.3

p.G44S

c.130G>A

58 papers

NM_005120.3

p.G44R

c.130G>C

1 paper

NM_005120.3

p.G44fs

c.130_131fs

1 paper

NM_005120.3

p.G44delins

c.130_131delinsAT

2 papers

NM_005120.3

p.G44_N46del0

c.131_136del6

1 paper

NM_005120.3

p.G44_N47del0

c.131_139del9

1 paper

NM_005120.3

p.G44_P49del0

c.131_145del15

1 paper

NM_005120.3

p.F45_V51delFs

c.133_152del20

1 paper

NM_005120.3

p.Q43_G44insFs

c.129_130insT

1 paper

NM_005120.3

p.Q43H

c.129A>C

2 papers

NM_005120.3

p.Q43Q

c.129A>G

1 paper

NM_005120.3

p.Q43H

c.129A>T