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.L36L

c.108G>T

Surrounding Variants

1 paper

NM_005120.3

p.L36L

c.108G>A

1 paper

NM_005120.3

p.L36L

c.108G>C

1 paper

NM_005120.3

p.T37_N40del0

c.109_120del12

1 paper

NM_005120.3

p.L36_K42delins

c.108_124delinsTA

1 paper

NM_005120.3

p.T37_N46del0

c.110_136del27

1 paper

NM_005120.3

p.T37ins1

c.109_110insCGG

1 paper

NM_005120.3

p.A38insFs

c.112_113ins16

1 paper

NM_005120.3

p.T37ins3

c.109_110ins9

2 papers

NM_005120.3

p.T37P

c.109A>C

2 papers

NM_005120.3

p.T37_S52del0

c.111_155del45

1 paper

NM_005120.3

p.L36Q

c.107T>A

15 papers

NM_005120.3

p.L36P

c.107T>C