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.Y230*

c.690C>A

Surrounding Variants

1 paper

NM_199261.4

p.Y230*

c.690C>G

3 papers

NM_199261.4

p.R229*

c.685C>T

1 paper

NM_199261.4

p.G234*

c.700G>T

1 paper

NM_199261.4

p.N226K

c.678C>A

2 papers

NM_199261.4

p.N226K

c.678C>G

1 paper

NM_199261.4

p.S224S

c.672A>G

2 papers

NM_199261.4

p.R222Q

c.665G>A

1 paper

NM_199261.4

p.R222G

c.664C>G

8 papers

NM_199261.4

p.R222W

c.664C>T

1 paper

NM_199261.4

p.R222del1

c.664_665delCGG

2 papers

NM_199261.4

p.R221del1

c.661_662delAGG

1 paper

NM_199261.4

p.R220_R221del1

c.660_662delAAG