Varaico: Literature-Extracted Genetic Variants

Gene:TAF1D

TAF1D

21 papers

RefSeq Summary

TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al...

Pfam Domains

TAF1Daa 27–244UCSCTATA box-binding protein-associated factor 1D

Gene Aliases

HGNC Name

TATA-box binding protein associated factor, RNA polymerase I subunit D

HGNC Previous Symbol

JOSD3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
1 paper
NM_024116.4
p.V17L
c.49G>C
1 paper
NM_024116.4
p.R22Q
c.65G>A
1 paper
NM_024116.4
p.Q35L
c.104A>T
1 paper
NM_024116.4
p.Y39F
c.116A>T
1 paper
NM_024116.4
p.R50G
c.148C>G
1 paper
NM_024116.4
p.K85N
c.255G>T
1 paper
NM_024116.4
p.K85N
c.255G>C
1 paper
NM_024116.4
p.K88*
c.262A>T
1 paper
NM_024116.4
p.K122T
c.365A>C
1 paper
NM_024116.4
p.G130E
c.389G>A
1 paper
NM_024116.4
p.F161del1
c.481_482delAAA
1 paper
NM_024116.4
p.R194H
c.581G>A
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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."