Varaico: Literature-Extracted Genetic Variants

Gene:CLIP1
Variant:p.V257A

CLIP1

175 papers

RefSeq Summary

The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isof...

Pfam Domains

CAP_GLYaa 60–124UCSCCAP-Gly domain
CAP_GLYaa 214–278UCSCCAP-Gly domain
CLIP1aa 905–1073UCSCCLIP1-like domain
CLIP1_ZNFaa 1376–1393UCSCCLIP1 zinc knuckle
CLIP1_ZNFaa 1416–1432UCSCCLIP1 zinc knuckle

Gene Aliases

HGNC Name

CAP-Gly domain containing linker protein 1

HGNC Previous Symbol

RSN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001247997.2
p.V257A
c.770T>C
Surrounding Variants
1 paper
NM_001247997.2
p.A258T
c.772G>A
1 paper
NM_001247997.2
p.G255G
c.765C>T
1 paper
NM_001247997.2
p.K252R
c.755A>G
1 paper
NM_001247997.2
p.K252Q
c.754A>C
1 paper
NM_001247997.2
p.G251V
c.752G>T
1 paper
NM_001247997.2
p.E248K
c.742G>A
1 paper
NM_001247997.2
p.G232A
c.695G>C
1 paper
NM_001247997.2
p.L231F
c.691C>T
1 paper
NM_001247997.2
p.R229W
c.685C>T
1 paper
NM_001247997.2
p.G221ins3
c.662_663ins9
1 paper
NM_001247997.2
p.V220ins6
c.659_660ins18
1 paper
NM_001247997.2
p.V220A
c.659T>C
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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."