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.S413G

c.1237A>G

Surrounding Variants

3 papers

NM_080683.3

p.R402*

c.1204C>T

1 paper

NM_080683.3

p.E425A

c.1274A>C

1 paper

NM_080683.3

p.D427H

c.1279G>C

2 papers

NM_080683.3

p.S443N

c.1328G>A

1 paper

NM_080683.3

p.S444N

c.1331G>A

1 paper

NM_080683.3

p.G445A

c.1334G>C

1 paper

NM_080683.3

p.L446F

c.1336C>T

1 paper

NM_080683.3

p.V449V

c.1347A>G

1 paper

NM_080683.3

p.L473F

c.1419A>C

1 paper

NM_080683.3

p.L473F

c.1419A>T

1 paper

NM_080683.3

p.E477A

c.1430A>C

1 paper

NM_080683.3

p.R482Q

c.1445G>A