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.S206delFs

c.616delA

Surrounding Variants

1 paper

NM_001395978.1

p.G216E

c.647G>A

2 papers

NM_001395978.1

p.D218delFs

c.652delC

1 paper

NM_001395978.1

p.E226Splc

c.676+86A>T

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

1 paper

NM_001395978.1

p.Q196*

c.586C>T

1 paper

NM_001395978.1

p.R195delFs

c.585delT

1 paper

NM_001395978.1

p.R195S

c.585A>T

1 paper

NM_001395978.1

p.R195S

c.585A>C

1 paper

NM_001395978.1

p.I182insFs

c.545dupT

1 paper

NM_001395978.1

p.R180*

c.538C>T