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

2 papers

NM_001395978.1

p.E43A

c.128A>C

Surrounding Variants

2 papers

NM_001395978.1

p.R44*

c.130C>T

1 paper

NM_001395978.1

p.L42L

c.126A>G

3 papers

NM_001395978.1

p.M41V

c.121A>G

1 paper

NM_001395978.1

p.S40R

c.120T>G

1 paper

NM_001395978.1

p.S40R

c.120T>A

1 paper

NM_001395978.1

p.S40R

c.118A>C

1 paper

NM_001395978.1

p.F48_E49del1

c.143_145delCAA

1 paper

NM_001395978.1

p.V56I

c.166G>A

1 paper

NM_001395978.1

p.A57T

c.169G>A

1 paper

NM_001395978.1

p.K64K

c.192G>A

1 paper

NM_001395978.1

p.V71delFs

c.211delC

1 paper

NM_001395978.1

p.A75P

c.223G>C