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.D1780N

c.5338G>A

Surrounding Variants

1 paper

NM_080683.3

p.N1776delFs

c.5326delA

1 paper

NM_080683.3

p.L1770F

c.5310G>C

1 paper

NM_080685.3

p.Y1758*

c.5274T>A

1 paper

NM_080685.3

p.Y1758*

c.5274T>G

1 paper

NM_080683.3

p.S1744P

c.5230T>C

1 paper

NM_080683.3

p.Q1712*

c.5134C>T

1 paper

NM_080683.3

p.Y1710H

c.5128T>C

1 paper

NM_080683.3

p.S1794S

c.5382A>C

1 paper

NM_080683.3

p.E1795K

c.5383G>A

1 paper

NM_080683.3

p.G1806S

c.5416G>A

1 paper

NM_080683.3

p.E1695K

c.5083G>A

1 paper

NM_080683.3

p.I1810V

c.5428A>G