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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TAF11

Variant:p.L48F

TAF11

10 papers

RefSeq Summary

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to...

Pfam Domains

TAFII28aa 108–193UCSChTAFII28-like protein conserved region

Gene Aliases

HGNC Name

TATA-box binding protein associated factor 11

HGNC Previous Symbol

TAF2I

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:34887814 C>G

NM_005643.4

p.L48F

c.144G>C

Exome: 0.1% (AC=1169, hom=17)Genome: 0.3% (AC=412, hom=2)62 overlapping SVs

Surrounding Variants

1 paper

chr6:34887814 C>A

NM_005643.4

p.L48F

c.144G>T

exact variant not in gnomAD62 overlapping SVs

1 paper

chr6:34887918 C>T

NM_005643.4

p.E14K

c.40G>A

exact variant not in gnomAD62 overlapping SVs

4 papers

chr6:34883049 G>C

NM_005643.4

p.T68R

c.203C>G

Exome: 4.2% (AC=61067, hom=1464)Genome: 3.0% (AC=4594, hom=112)62 overlapping SVs

1 paper

chr6:34880008 G>A

NM_005643.4

p.S155F

c.464C>T

TAFII28

Exome: 0.0% (AC=237, hom=0)Genome: 0.0% (AC=25, hom=0)62 overlapping SVs

1 paper

chr6:34879981 TC>T

NM_005643.4

p.E164delFs

c.490delC

TAFII28

exact variant not in gnomAD62 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."