Varaico: Literature-Extracted Genetic Variants

TPTE

130 papers

RefSeq Summary

This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results i...

Pfam Domains

Ion_transaa 91–224UCSCIon transport protein

Tc-R-Paa 257–357UCSCPolymorphic toxin system, DSP-PTPase phosphatase

PTEN_C2aa 409–539UCSCC2 domain of PTEN tumour-suppressor protein

Gene Aliases

HGNC Name

transmembrane phosphatase with tensin homology

HGNC Alias Symbols

PTEN2; CT44; TPTE1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_199261.4

p.L498V

c.1492T>G

Surrounding Variants

1 paper

NM_199261.4

p.W497C

c.1491G>C

1 paper

NM_199261.4

p.W497C

c.1491G>T

1 paper

NM_199261.4

p.W497R

c.1489T>A

1 paper

NM_199261.4

p.W497R

c.1489T>C

1 paper

NM_199261.4

p.S493T

c.1477T>A

1 paper

NM_199261.4

p.E504Q

c.1510G>C

1 paper

NM_199261.4

p.Y489C

c.1466A>G

3 papers

NM_199261.4

p.Y482S

c.1445A>C

1 paper

NM_199261.4

p.Y482delins

c.1445_1446delinsCC

1 paper

NM_199261.4

p.L472L

c.1416G>C

2 papers

NM_199261.4

p.L470P

c.1409T>C

1 paper

NM_199261.4

p.D465G

c.1394A>G