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.P520L

c.1559C>T

Surrounding Variants

1 paper

NM_080683.3

p.E523*

c.1567G>T

1 paper

NM_080683.3

p.I524L

c.1570A>C

1 paper

NM_080683.3

p.A511A

c.1533G>A

1 paper

NM_080683.3

p.A529D

c.1586C>A

1 paper

NM_080683.3

p.A511V

c.1532C>T

2 papers

NM_080683.3

p.Q532*

c.1594C>T

1 paper

NM_080683.3

p.R533S

c.1599A>C

1 paper

NM_080683.3

p.R533S

c.1599A>T

1 paper

NM_080683.3

p.L503P

c.1508T>C

1 paper

NM_080683.3

p.R500Q

c.1499G>A

1 paper

NM_080683.3

p.R500P

c.1499G>C

1 paper

NM_080683.3

p.R482Q

c.1445G>A