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

Selected Variant

2 papers

NM_002846.4

p.P257S

c.769C>T

Surrounding Variants

1 paper

NM_002846.4

p.G258A

c.773G>C

1 paper

NM_002846.4

p.Y261N

c.781T>A

1 paper

NM_002846.4

p.G251A

c.752G>C

1 paper

NM_002846.4

p.Q271P

c.812A>C

1 paper

NM_002846.4

p.L235M

c.703C>A

1 paper

NM_002846.4

p.G233G

c.699C>G

1 paper

NM_002846.4

p.S226F

c.677C>T

1 paper

NM_002846.4

p.G225delFs

c.674delC

1 paper

NM_002846.4

p.G225A

c.674G>C

1 paper

NM_002846.4

p.R292W

c.874A>T

1 paper

NM_002846.4

p.R217fs

c.649_650fs

1 paper

NM_002846.4

p.S302delFs

c.905delC