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.S285F

c.854C>T

Surrounding Variants

1 paper

NM_001247997.2

p.T286A

c.856A>G

1 paper

NM_001247997.2

p.T287A

c.859A>G

1 paper

NM_001247997.2

p.F272F

c.816C>T

5 papers

NM_001247997.2

p.L271F

c.813G>T

5 papers

NM_001247997.2

p.L271F

c.813G>C

1 paper

NM_001247997.2

p.F263S

c.788T>C

1 paper

NM_001247997.2

p.R309L

c.926G>T

1 paper

NM_001247997.2

p.S312A

c.934T>G

1 paper

NM_001247997.2

p.S315F

c.944C>T

1 paper

NM_001247997.2

p.S321L

c.962C>T

1 paper

NM_001247997.2

p.S328G

c.982A>G

1 paper

NM_001247997.2

p.A258T

c.772G>A