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.V71delFs

c.211delC

Surrounding Variants

1 paper

NM_001395978.1

p.A75P

c.223G>C

1 paper

NM_001395978.1

p.K64K

c.192G>A

2 papers

NM_130785.4

p.I41L

c.121A>T

NM_001395978.1

p.I78L

c.232A>T

2 papers

NM_130785.4

p.I41L

c.121A>C

NM_001395978.1

p.I78L

c.232A>C

1 paper

NM_001395978.1

p.V88A

c.263T>C

1 paper

NM_001395978.1

p.T89I

c.266C>T

1 paper

NM_001395978.1

p.F97Y

c.290T>A

1 paper

NM_001395978.1

p.S100N

c.299G>A

1 paper

NM_001395978.1

p.K101Q

c.301A>C

1 paper

NM_001395978.1

p.I104L

c.310A>C

1 paper

NM_001395978.1

p.L106_R109delFs

c.316_325del10

1 paper

NM_001395978.1

p.R109R

c.327T>A