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.V1132A

c.3395T>C

Surrounding Variants

1 paper

NM_005120.3

p.V1132fs

c.3394_3395fs

1 paper

NM_005120.3

p.A1133T

c.3397G>A

1 paper

NM_005120.3

p.V1132_A1133delFs

c.3394_3397del4

1 paper

NM_005120.3

p.A1133D

c.3398C>A

1 paper

NM_005120.3

p.L1128delFs

c.3383delT

1 paper

NM_005120.3

p.A1137T

c.3409G>A

1 paper

NM_005120.3

p.S1127*

c.3380C>A

1 paper

NM_005120.3

p.S1127P

c.3379T>C

1 paper

NM_005120.3

p.D1126E

c.3378C>A

1 paper

NM_005120.3

p.D1126E

c.3378C>G

1 paper

NM_005120.3

p.R1138G

c.3412C>G

7 papers

NM_005120.3

p.R1138W

c.3412C>T