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.I349M

c.1047A>G

Surrounding Variants

1 paper

NM_080683.3

p.A350G

c.1049C>G

1 paper

NM_080683.3

p.A350V

c.1049C>T

1 paper

NM_080683.3

p.S348T

c.1043G>C

1 paper

NM_080683.3

p.K358_A373insFs

c.1072_1117dup46

1 paper

NM_080683.3

p.Q357*

c.1069C>T

2 papers

NM_080683.3

p.K340fs

c.1018_1019fs

1 paper

NM_080683.3

p.D360N

c.1078G>A

2 papers

NM_080683.3

p.K340delFs

c.1019delA

1 paper

NM_080683.3

p.P361L

c.1082C>T

2 papers

NM_080683.3

p.S334T

c.1000T>A

1 paper

NM_080683.3

p.R366*

c.1096C>T

1 paper

NM_080683.3

p.R366Q

c.1097G>A