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

1 paper

NM_002846.4

p.F211L

c.633C>G

Surrounding Variants

1 paper

NM_002846.4

p.F211L

c.633C>A

1 paper

NM_002846.4

p.F211L

c.631T>C

1 paper

NM_002846.4

p.Q213_F214Splc

c.639+1G>A

1 paper

NM_002846.4

p.P203S

c.607C>T

1 paper

NM_002846.4

p.H196fs

c.586_587fs

1 paper

NM_002846.4

p.P195S

c.583C>T

1 paper

NM_002846.4

p.P195A

c.583C>G

1 paper

NM_002846.4

p.P194delFs

c.582delA

1 paper

NM_002846.4

p.R217fs

c.649_650fs

1 paper

NM_002846.4

p.Q177R

c.530A>G

1 paper

NM_002846.4

p.P175insFs

c.524_525insA

1 paper

NM_002846.4

p.P175insFs

c.523_524insG