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

1–12 of 133 variants

8 papers

NM_199261.4

p.R222W

c.664C>T

4 papers

NM_199261.4

p.L184F

c.550C>T

4 papers

NM_199261.4

p.R195Q

c.584G>A

3 papers

NM_199261.4

p.R198*

c.592C>T

3 papers

NM_199261.4

p.R229*

c.685C>T

3 papers

NM_199261.4

p.M348V

c.1042A>G

3 papers

NM_199261.4

p.R411K

c.1232G>A

3 papers

NM_199261.4

p.Y482S

c.1445A>C

2 papers

NM_199261.4

p.S26N

c.77G>A

2 papers

NM_199261.4

p.K182_L183del1

c.546_548delGTT

2 papers

NM_199261.4

p.H207Q

c.621T>A

2 papers

NM_199261.4

p.H207Q

c.621T>G