Varaico: Literature-Extracted Genetic Variants

MED12L

117 papers

RefSeq Summary

The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-spe...

Pfam Domains

Med12aa 104–161UCSCTranscription mediator complex subunit Med12

Med12-LCEWAVaa 283–765UCSCEukaryotic Mediator 12 subunit domain

Med12-PQLaa 1837–2054UCSCEukaryotic Mediator 12 catenin-binding domain

Gene Aliases

HGNC Name

mediator complex subunit 12L

HGNC Alias Symbols

KIAA1635; TNRC11L; TRALPUSH; TRALP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001393769.1

p.S1268P

c.3802T>C

Surrounding Variants

1 paper

NM_053002.6

p.R1210Q

c.3629G>A

1 paper

NM_053002.6

p.R1210*

c.3628C>T

1 paper

NM_001393769.1

p.G1243S

c.3727G>A

1 paper

NM_001393769.1

p.D1238G

c.3713A>G

1 paper

NM_001393769.1

p.G1227G

c.3681C>T

1 paper

NM_053002.6

p.G1187Splc

c.3559+2T>G

1 paper

NM_001393769.1

p.I1206S

c.3617T>G

1 paper

NM_053002.6

p.G1149fs

c.3445_3446fs

1 paper

NM_001393769.1

p.L1341L

c.4021C>T

1 paper

NM_001393769.1

p.G1433R

c.4297G>A

1 paper

NM_053002.6

p.A1147_T1148insFs

c.3441_3444dup4

1 paper

NM_001393769.1

p.L1147_A1148insFs

c.3441_3444dup4