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.C909S

c.2725T>A

Surrounding Variants

1 paper

NM_002846.4

p.C909S

c.2726G>C

2 papers

NM_002846.4

p.V907M

c.2719G>A

1 paper

NM_002846.4

p.R899W

c.2695C>T

1 paper

NM_002846.4

p.S910Splc

c.2729+89A>G

4 papers

NM_002846.4

p.D911A

c.2732A>C

1 paper

NM_002846.4

p.D923N

c.2767G>A

1 paper

NM_002846.4

p.A939T

c.2815G>A

1 paper

NM_002846.4

p.R946C

c.2836C>T

1 paper

NM_002846.4

p.D947A

c.2840A>C

1 paper

NM_002846.4

p.V953F

c.2857G>T

1 paper

NM_002846.4

p.K956_D957Splc

c.2868+1G>A

1 paper

NM_002846.4

p.D957E

c.2871C>G