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

2 papers

NM_001247997.2

p.E785K

c.2353G>A

Surrounding Variants

1 paper

NM_001247997.2

p.R780W

c.2338C>T

1 paper

NM_001247997.2

p.A778T

c.2332G>A

1 paper

NM_001247997.2

p.L776F

c.2326C>T

1 paper

NM_001247997.2

p.R794fs

c.2380_2381fs

1 paper

NM_001247997.2

p.R794insFs

c.2380dupA

1 paper

NM_001247997.2

p.E801A

c.2402A>C

1 paper

NM_001247997.2

p.I809F

c.2425A>T

1 paper

NM_001247997.2

p.A813T

c.2437G>A

1 paper

NM_001247997.2

p.K741Q

c.2221A>C

1 paper

NM_001247997.2

p.V726I

c.2176G>A

1 paper

NM_001247997.2

p.A720_E721del1

c.2159_2161delCTG

1 paper

NM_001247997.2

p.N708H

c.2122A>C