Varaico: Literature-Extracted Genetic Variants

TPTE2

81 papers

RefSeq Summary

TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002].

Pfam Domains

Ion_transaa 73–207UCSCIon transport protein

PTP-SAKaa 260–369UCSCSwiss Army Knife protein, DSP-PTPase phosphatase domain

PTEN_C2aa 391–521UCSCC2 domain of PTEN tumour-suppressor protein

Gene Aliases

HGNC Name

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2

HGNC Alias Symbol

TPIP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001395978.1

p.E247K

c.739G>A

Surrounding Variants

1 paper

NM_001395978.1

p.P245S

c.733C>T

1 paper

NM_001395978.1

p.Q239insFs

c.715dupC

3 papers

NM_001395978.1

p.Q239*

c.715C>T

1 paper

NM_001395978.1

p.A230A

c.690T>G

1 paper

NM_001395978.1

p.R227insFs

c.680dupG

1 paper

NM_001395978.1

p.E226Splc

c.676+86A>T

2 papers

NM_001395978.1

p.D218delFs

c.652delC

1 paper

NM_001395978.1

p.G216E

c.647G>A

1 paper

NM_001395978.1

p.S206delFs

c.616delA

1 paper

NM_001395978.1

p.R203S

c.609G>T

1 paper

NM_001395978.1

p.R203S

c.609G>C

1 paper

NM_001395978.1

p.M201_R202insFs

c.603_604insG