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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTAG1B

CTAG1B

Xq28 (UCSC)OMIM GTEx

15 papers

RefSeq Summary

The protein encoded by this gene is an antigen that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region of the X-chromosome and ther...

Pfam Domains

Pcc1aa 89–164UCSCTranscription factor Pcc1

Pcc1aa 89–164UCSCTranscription factor Pcc1

Gene Aliases

HGNC Name

cancer/testis antigen 1B

HGNC Previous Symbol

CTAG1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chrX:154619062 C>T

NM_001327.3

p.A53T

c.157G>A

exact variant not in gnomAD8 overlapping SVs

chrX:154618991 G>A

NM_001327.3

p.C76C

c.228C>T

exact variant not in gnomAD8 overlapping SVs

chrX:154618177 A>T

NM_001327.3

p.L122L

c.366T>A

exact variant not in gnomAD8 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."