Varaico: Literature-Extracted Genetic Variants

Gene:TCF25
Variant:p.R47H

TCF25

54 papers

RefSeq Summary

TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2...

Pfam Domains

Tcf25aa 248–588UCSCTranscriptional repressor TCF25

Gene Aliases

HGNC Name

TCF25 ribosome quality control complex subunit

HGNC Alias Symbols

Nulp1; KIAA1049

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014972.3
p.R47H
c.140G>A
Surrounding Variants
1 paper
NM_014972.3
p.V45G
c.134T>G
1 paper
NM_014972.3
p.D31D
c.93C>T
1 paper
NM_014972.3
p.P21R
c.62C>G
1 paper
NM_014972.3
p.E12G
c.35A>G
1 paper
NM_014972.3
p.R7delins
c.21delinsCGTCTCA
1 paper
NM_014972.3
p.L6H
c.17T>A
1 paper
NM_014972.3
p.A5T
c.13G>A
1 paper
NM_014972.3
p.N77N
c.231C>T
1 paper
NM_014972.3
p.A88V
c.263C>T
1 paper
NM_014972.3
p.R99C
c.295C>T
1 paper
NM_014972.3
p.T111_E112insFs
c.333_334ins16
1 paper
NM_014972.3
p.T111_E112insFs
c.333_334ins32
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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."