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.A37V

c.110C>T

Surrounding Variants

1 paper

NM_199261.4

p.A35V

c.104C>T

1 paper

NM_199261.4

p.S40I

c.119G>T

1 paper

NM_199261.4

p.E33K

c.97G>A

1 paper

NM_199261.4

p.F28delFs

c.82_83delTT

1 paper

NM_199261.4

p.E27K

c.79G>A

2 papers

NM_199261.4

p.S26N

c.77G>A

1 paper

NM_199261.4

p.T25T

c.75A>T

1 paper

NM_199261.4

p.A49E

c.146C>A

1 paper

NM_199261.4

p.G18S

c.52G>A

1 paper

NM_199261.4

p.V13L

c.37G>C

1 paper

NM_199261.4

p.G12E

c.35G>A

1 paper

NM_199261.4

p.G12A

c.35G>C