Varaico: Literature-Extracted Genetic Variants

Gene:GTF2IRD2B
Variant:p.Y119H

GTF2IRD2B

19 papers

RefSeq Summary

This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, on...

Pfam Domains

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
FAM200-GTF2IRD2-likeaa 652–799UCSCFAM200/GTF2IRD2 RNase-like helical

Gene Aliases

HGNC Name

GTF2I repeat domain containing 2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001003795.3
p.Y119H
c.355T>C
Surrounding Variants
1 paper
NM_001003795.3
p.G211S
c.631G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."