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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHIC2

Variant:p.P103R

CHIC2

4q12 (UCSC)OMIM GTEx

23 papers

RefSeq Summary

This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This...

Pfam Domains

Erf4aa 39–141UCSCGolgin subfamily A member 7/ERF4 family

Gene Aliases

HGNC Name

cysteine rich hydrophobic domain 2

HGNC Alias Symbol

BTL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr4:54048977 G>C

NM_012110.4

p.P103R

c.308C>G

exact variant not in gnomAD71 overlapping SVs

Surrounding Variants

chr4:54049035 G>C

NM_012110.4

p.R84G

c.250C>G

exact variant not in gnomAD71 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."