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.Q390_K391Splc

c.1171-4T>C

Surrounding Variants

1 paper

NM_199261.4

p.H402delFs

c.1205delA

1 paper

NM_199261.4

p.W406*

c.1217G>A

1 paper

NM_199261.4

p.W406*

c.1218G>A

1 paper

NM_199261.4

p.L408V

c.1222C>G

3 papers

NM_199261.4

p.R411K

c.1232G>A

1 paper

NM_199261.4

p.S423T

c.1267T>A

2 papers

NM_199261.4

p.S423L

c.1268C>T

2 papers

NM_199261.4

p.R426C

c.1276C>T

1 paper

NM_199261.4

p.D430N

c.1288G>A

1 paper

NM_199261.4

p.E436Q

c.1306G>C

1 paper

NM_199261.4

p.K439R

c.1316A>G

1 paper

NM_199261.4

p.S447L

c.1340C>T