Varaico: Literature-Extracted Genetic Variants

Gene:PTPRA
Variant:p.C627C

PTPRA

43 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

Y_phosphataseaa 265–500UCSCProtein-tyrosine phosphatase
Y_phosphataseaa 558–790UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type A

HGNC Previous Symbol

PTPRL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001385305.1
p.C627C
c.1881C>T
Surrounding Variants
1 paper
NM_001385305.1
p.S602C
c.1805C>G
1 paper
NM_080841.3
p.T577R
c.1730C>G
1 paper
NM_001385305.1
p.F572L
c.1716C>A
1 paper
NM_001385305.1
p.F572L
c.1716C>G
1 paper
NM_001385305.1
p.F572L
c.1714T>C
1 paper
NM_001385305.1
p.R551Q
c.1652G>A
2 papers
NM_080841.3
p.E506G
c.1517A>G
NM_001385305.1
p.E515G
c.1544A>G
1 paper
NM_001385305.1
p.Y504F
c.1511A>T
1 paper
NM_001385305.1
p.E500K
c.1498G>A
1 paper
NM_001385305.1
p.L499_E500delins
c.1497_1498delinsAA
1 paper
NM_001385305.1
p.Q490delFs
c.1468delC
1 paper
NM_001385305.1
p.R478W
c.1432C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."