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.S1411R

c.4233T>G

Surrounding Variants

1 paper

NM_001247997.2

p.P1394S

c.4180C>T

1 paper

NM_001247997.2

p.C1382R

c.4144T>C

1 paper

NM_001247997.2

p.C1379R

c.4135T>C

1 paper

NM_001247997.2

p.S1364Splc

c.4091+63G>A

1 paper

NM_001247997.2

p.S1364Splc

c.4091+53C>T

1 paper

NM_001247997.2

p.G1356R

c.4066G>A

1 paper

NM_001247997.2

p.M1346T

c.4037T>C

1 paper

NM_001247997.2

p.K1341R

c.4022A>G

1 paper

NM_001247997.2

p.Q1322E

c.3964C>G

1 paper

NM_001247997.2

p.L1252delFs

c.3755_3756delCA

1 paper

NM_001247997.2

p.L1252fs

c.3754_3755fs

1 paper

NM_001247997.2

p.A1229G

c.3686C>G