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.R923fs

c.2767_2768fs

Surrounding Variants

1 paper

NM_080683.3

p.R923G

c.2767C>G

3 papers

NM_080683.3

p.R923*

c.2767C>T

1 paper

NM_080683.3

p.I931insFs

c.2793dupT

1 paper

NM_080683.3

p.L912V

c.2734C>G

1 paper

NM_080683.3

p.I907V

c.2719A>G

1 paper

NM_080683.3

p.G900E

c.2699G>A

1 paper

NM_080683.3

p.R899G

c.2695A>G

1 paper

NM_080683.3

p.Q947Q

c.2841A>G

1 paper

NM_080683.3

p.E896K

c.2686G>A

1 paper

NM_080683.3

p.E952*

c.2854G>T

1 paper

NM_080683.3

p.D955Y

c.2863G>T

3 papers

NM_080683.3

p.S887L

c.2660C>T