Varaico: Literature-Extracted Genetic Variants

Gene:GTF2IRD2
Variant:p.S254P

GTF2IRD2

35 papers

RefSeq Summary

This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein ...

Pfam Domains

CENP-B_Naa 17–70UCSCCENP-B N-terminal DNA-binding domain
HTH_Tnp_Tc5aa 89–159UCSCTc5 transposase DNA-binding domain
GTF2Iaa 107–181UCSCGTF2I-like repeat
GTF2Iaa 332–406UCSCGTF2I-like repeat
zf-C2H2_12aa 429–491UCSCSpin-doc/GT2D2, zinc finger domain
FAM200-ZBED5_RNase-likeaa 492–638UCSCFAM200/ZBED5 RNase-like

Gene Aliases

HGNC Name

GTF2I repeat domain containing 2

HGNC Alias Symbols

FLJ37938; GTF2IRD2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173537.5
p.S254P
c.760T>C
Surrounding Variants
3 papers
NM_173537.5
p.A381D
c.1142C>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."