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.H24Q

c.72C>A

Surrounding Variants

11 papers

NM_001395978.1

p.L33R

c.98T>G

14 papers

NM_001395978.1

p.K39E

c.115A>G

1 paper

NM_001395978.1

p.A19V

c.56C>T

1 paper

NM_001395978.1

p.E16K

c.46G>A