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

3 papers

NM_001247997.2

p.D1080E

c.3240C>G

Surrounding Variants

3 papers

NM_001247997.2

p.D1080E

c.3240C>A

1 paper

NM_001247997.2

p.Q1070H

c.3210G>T

1 paper

NM_001247997.2

p.Q1070H

c.3210G>C

1 paper

NM_001247997.2

p.R1062L

c.3185G>T

1 paper

NM_001247997.2

p.Q1021*

c.3061C>T

NM_198240.3

p.Q975*

c.2923C>T

NM_002956.3

p.Q1010*

c.3028C>T

1 paper

NM_001247997.2

p.E1012delFs

c.3034delC

5 papers

NM_001247997.2

p.E1012K

c.3034G>A

1 paper

NM_001247997.2

p.E1012fs

c.3034_3035fs

1 paper

NM_001247997.2

p.E1000K

c.2998G>A

1 paper

NM_001247997.2

p.M982I

c.2946G>C

1 paper

NM_001247997.2

p.E980*

c.2938G>T

1 paper

NM_001247997.2

p.S978fs

c.2932_2933fs