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

1–12 of 177 variants

5 papers

NM_001247997.2

p.T27M

c.80C>T

5 papers

NM_001247997.2

p.L271F

c.813G>T

5 papers

NM_001247997.2

p.L271F

c.813G>C

5 papers

NM_001247997.2

p.E1012K

c.3034G>A

3 papers

NM_001247997.2

p.D1080E

c.3240C>G

3 papers

NM_001247997.2

p.D1080E

c.3240C>A

2 papers

NM_001247997.2

p.E785K

c.2353G>A

2 papers

NM_001247997.2

p.S1411R

c.4233T>G

1 paper

NM_001247997.2

p.M3V

c.7A>G

1 paper

NM_001247997.2

p.P6L

c.17C>T

1 paper

NM_001247997.2

p.S7N

c.20G>A

1 paper

NM_001247997.2

p.K10N

c.30G>T