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

5 papers

NM_001395978.1

p.Y449F

c.1346A>T

Surrounding Variants

2 papers

NM_001395978.1

p.Y449delins

c.1346_1347delinsTC

4 papers

NM_001395978.1

p.N447D

c.1339A>G

1 paper

NM_001395978.1

p.I446T

c.1337T>C

2 papers

NM_001395978.1

p.L454L

c.1360C>T

1 paper

NM_001395978.1

p.Y455F

c.1364A>T

1 paper

NM_001395978.1

p.V458_K459insAC

c.1372_1376ins6

1 paper

NM_001395978.1

p.V458V

c.1374G>T

1 paper

NM_001395978.1

p.S464C

c.1391C>G

1 paper

NM_001395978.1

p.S465_N466Splc

c.1395+626G>A

1 paper

NM_001395978.1

p.D472N

c.1414G>A

1 paper

NM_001141968.2

p.C363S

c.1087T>A

1 paper

NM_001141968.2

p.C363S

c.1088G>C