Varaico: Literature-Extracted Genetic Variants

PTPRN

139 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

RESP18aa 60–160UCSCRESP18 domain

Receptor_IA-2aa 469–557UCSCProtein-tyrosine phosphatase receptor IA-2

Y_phosphataseaa 734–968UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type N

HGNC Alias Symbols

IA-2; ICA512

Papers

RefSeq ID

Protein change

DNA change

1–12 of 132 variants

4 papers

NM_002846.4

p.D911A

c.2732A>C

2 papers

NM_002846.4

p.Q81Q

c.243A>G

2 papers

NM_002846.4

p.P257S

c.769C>T

2 papers

NM_002846.4

p.V907M

c.2719G>A

1 paper

NM_002846.4

p.M1V

c.1A>G

1 paper

NM_002846.4

p.R6W

c.16C>T

1 paper

NM_002846.4

p.G11W

c.31G>T

1 paper

NM_002846.4

p.G11R

c.31G>C

1 paper

NM_002846.4

p.G11R

c.31G>A

1 paper

NM_002846.4

p.L16L

c.48C>T

1 paper

NM_002846.4

p.C32Y

c.95G>A

1 paper

NM_002846.4

p.I54M

c.162T>G