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

4 papers

NM_199261.4

p.L184F

c.550C>T

Surrounding Variants

2 papers

NM_199261.4

p.K182_L183del1

c.546_548delGTT

1 paper

NM_199261.4

p.K182_L183del2

c.544_548del6

1 paper

NM_199261.4

p.I181_K182del1

c.543_545delTAA

1 paper

NM_199261.4

p.F179fs

c.535_536fs

1 paper

NM_199261.4

p.F179delFs

c.537delT

1 paper

NM_199261.4

p.D162N

c.484G>A

1 paper

NM_199261.4

p.S155fs

c.463_464fs

1 paper

NM_199261.4

p.S155insFs

c.463dupT

1 paper

NM_199261.4

p.R150G

c.448A>G

1 paper

NM_199261.4

p.T191A

c.571A>G

4 papers

NM_199261.4

p.R195Q

c.584G>A

3 papers

NM_199261.4

p.R198*

c.592C>T