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

1 paper

NM_005120.3

p.A38V

c.113C>T

Surrounding Variants

1 paper

NM_005120.3

p.A38D

c.113C>A

1 paper

NM_005120.3

p.A38G

c.113C>G

1 paper

NM_005120.3

p.A38_Q43del0

c.114_128del15

2 papers

NM_005120.3

p.A38_F45del0

c.114_134del21

4 papers

NM_005120.3

p.L39_N47del0

c.115_141del27

1 paper

NM_005120.3

p.A38_A50delins

c.113_149delinsT

3 papers

NM_005120.3

p.L39_S52del0

c.116_154del39

1 paper

NM_005120.3

p.A38A

c.114C>A

3 papers

NM_005120.3

p.L39_F45del0

c.117_134del18

2 papers

NM_005120.3

p.A38_N46delins

c.114_138delinsA

1 paper

NM_005120.3

p.L39_A50del12

c.115_149del36

1 paper

NM_005120.3

p.L39_D54del0

c.115_162del48