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.D34fs

c.100_101fs

Surrounding Variants

1 paper

NM_005120.3

p.D34N

c.100G>A

1 paper

NM_005120.3

p.D34H

c.100G>C

1 paper

NM_005120.3

p.D34fs

c.100_101fs

3 papers

NM_005120.3

p.D34Y

c.100G>T

2 papers

NM_005120.3

p.D34_L36del0

c.101_106del6

1 paper

NM_005120.3

p.E35_V41del0

c.104_121del18

1 paper

NM_005120.3

p.D34_Q43del0

c.102_128del27

4 papers

NM_005120.3

p.E35_N46del0

c.103_138del36

2 papers

NM_005120.3

p.D34G

c.101A>G

2 papers

NM_005120.3

p.D34V

c.101A>T

1 paper

NM_005120.3

p.D34_A38del0

c.102_113del12

1 paper

NM_005120.3

p.D34_V41delins

c.101_121delinsCTGAAC