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.L533P

c.1598T>C

Surrounding Variants

1 paper

NM_001247997.2

p.P538fs

c.1612_1613fs

1 paper

NM_001247997.2

p.S545*

c.1634C>A

1 paper

NM_001247997.2

p.A520E

c.1559C>A

1 paper

NM_001247997.2

p.E551D

c.1653G>T

1 paper

NM_001247997.2

p.E551D

c.1653G>C

1 paper

NM_001247997.2

p.M513I

c.1539G>T

1 paper

NM_001247997.2

p.M513I

c.1539G>C

1 paper

NM_001247997.2

p.M513I

c.1539G>A

1 paper

NM_002956.3

p.R500C

c.1498C>T

1 paper

NM_001247997.2

p.E557K

c.1669G>A

1 paper

NM_001247997.2

p.R568I

c.1703G>T

1 paper

NM_001247997.2

p.E596K

c.1786G>A