Varaico: Literature-Extracted Genetic Variants

PTPN13

250 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differe...

Pfam Domains

FERM_Naa 576–638UCSCFERM N-terminal domain

FERM_Maa 665–781UCSCFERM central domain

FERM_Caa 787–876UCSCFERM C-terminal PH-like domain

PDZaa 1093–1176UCSCPDZ domain

PTN13_u3aa 1177–1367UCSCUnstructured linker region on PTN13 protein between PDZ

PDZaa 1368–1450UCSCPDZ domain

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 13

HGNC Alias Symbols

PTP1E; PTP-BAS; PTPL1; PTP-BL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_080683.3

p.D1825G

c.5474A>G

Surrounding Variants

1 paper

NM_080683.3

p.D1825N

c.5473G>A

1 paper

NM_080683.3

p.D1832G

c.5495A>G

1 paper

NM_080683.3

p.D1816N

c.5446G>A

1 paper

NM_080683.3

p.G1811S

c.5431G>A

1 paper

NM_080683.3

p.I1810V

c.5428A>G

1 paper

NM_080683.3

p.G1806S

c.5416G>A

1 paper

NM_080683.3

p.E1795K

c.5383G>A

1 paper

NM_080683.3

p.S1794S

c.5382A>C

1 paper

NM_080683.3

p.T1848I

c.5543C>T

1 paper

NM_080683.3

p.R1855L

c.5564G>T

1 paper

NM_080683.3

p.T1887T

c.5661G>A

1 paper

NM_080683.3

p.G1894Splc

c.5681-1G>A