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

1–12 of 131 variants

14 papers

NM_001395978.1

p.K39E

c.115A>G

11 papers

NM_001395978.1

p.L33R

c.98T>G

5 papers

NM_001395978.1

p.Y449F

c.1346A>T

4 papers

NM_001395978.1

p.N447D

c.1339A>G

3 papers

NM_001395978.1

p.M41V

c.121A>G

3 papers

NM_001395978.1

p.Q239*

c.715C>T

2 papers

NM_001395978.1

p.M1insFs

c.2_3insC

2 papers

NM_001395978.1

p.E43A

c.128A>C

2 papers

NM_001395978.1

p.R44*

c.130C>T

2 papers

NM_001395978.1

p.V123V

c.369T>A

2 papers

NM_001395978.1

p.R177*

c.529C>T

2 papers

NM_001395978.1

p.D218delFs

c.652delC