Varaico: Literature-Extracted Genetic Variants

PTPRR

59 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell gro...

Pfam Domains

PTPRR_Naa 112–211UCSCPTRR N-terminal domain

Y_phosphataseaa 415–646UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type R

HGNC Alias Symbols

PTPBR7; PTP-SL; EC-PTP; PCPTP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002849.4

p.K314R

c.941A>G

Surrounding Variants

1 paper

NM_002849.4

p.K314I

c.941A>T

1 paper

NM_002849.4

p.A310T

c.928G>A

1 paper

NM_002849.4

p.C322F

c.965G>T

1 paper

NM_002849.4

p.Q334*

c.1000C>T

1 paper

NM_002849.4

p.E282K

c.844G>A

1 paper

NM_002849.4

p.Y249H

c.745T>C

4 papers

NM_002849.4

p.V239I

c.715G>A

1 paper

NM_002849.4

p.E209_K210Splc

c.628-61T>C