Varaico: Literature-Extracted Genetic Variants

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.P6L

c.17C>T

Surrounding Variants

1 paper

NM_001247997.2

p.S7N

c.20G>A

1 paper

NM_001247997.2

p.M3V

c.7A>G

1 paper

NM_001247997.2

p.K10N

c.30G>T

1 paper

NM_001247997.2

p.K10N

c.30G>C

1 paper

NM_001247997.2

p.T13N

c.38C>A

1 paper

NM_001247997.2

p.K14N

c.42G>T

1 paper

NM_001247997.2

p.K14N

c.42G>C

1 paper

NM_001247997.2

p.I15N

c.44T>A

1 paper

NM_001247997.2

p.K17M

c.50A>T

1 paper

NM_001247997.2

p.K17N

c.51G>T

1 paper

NM_001247997.2

p.K17N

c.51G>C

1 paper

NM_001247997.2

p.P18L

c.53C>T