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.S1014C

c.3041C>G

Surrounding Variants

1 paper

NM_080683.3

p.P1003S

c.3007C>T

2 papers

NM_080683.3

p.S1004del1

c.3010_3011delTCT

2 papers

NM_080683.3

p.A997V

c.2990C>T

1 paper

NM_080683.3

p.P992L

c.2975C>T

1 paper

NM_080683.3

p.N984S

c.2951A>G

2 papers

NM_080683.3

p.R982Q

c.2945G>A

2 papers

NM_080683.3

p.R982W

c.2944C>T

1 paper

NM_080683.3

p.A976V

c.2927C>T

1 paper

NM_080683.3

p.A976_S977delFs

c.2928_2929delCT

1 paper

NM_080683.3

p.Y970*

c.2910C>A

1 paper

NM_080683.3

p.Y970*

c.2910C>G

1 paper

NM_080683.3

p.S1024*

c.3071C>A