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.D2004G

c.6011A>G

Surrounding Variants

1 paper

NM_080683.3

p.S2005*

c.6014C>A

1 paper

NM_080683.3

p.S2005*

c.6014C>G

1 paper

NM_080683.3

p.S1976F

c.5927C>T

1 paper

NM_080683.3

p.P1971L

c.5912C>T

1 paper

NM_080683.3

p.L1967P

c.5900T>C

1 paper

NM_080683.3

p.R1964Splc

c.5892-1G>T

1 paper

NM_080683.3

p.V2009I

c.6025G>A

1 paper

NM_080683.3

p.E2040V

c.6119A>T

6 papers

NM_080683.3

p.Y2081D

c.6241T>G

1 paper

NM_080683.3

p.G2092R

c.6274G>A

1 paper

NM_080683.3

p.G2092R

c.6274G>C

1 paper

NM_080685.3

p.D2110G

c.6329A>G