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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRIPTO3

CRIPTO3

Xq23 (UCSC)GTEx

4 papers

RefSeq Summary

The TDGF3 locus has characteristics of a retrotransposon, including lack of introns and a poly(A) sequence. [provided by RefSeq, Jul 2008].

Pfam Domains

CFCaa 115–149UCSCCripto_Frl-1_Cryptic (CFC)

Gene Aliases

HGNC Name

cripto, EGF-CFC family member 3

HGNC Previous Symbols

TDGF3; TDGF1P3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chrX:110521166 G>T

NM_001397362.1

p.V13L

c.37G>T

exact variant not in gnomAD49 overlapping SVs

chrX:110521539 A>T

NM_001397362.1

p.Q137L

c.410A>T

exact variant not in gnomAD49 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."