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.G1364R

c.4090G>C

Surrounding Variants

1 paper

NM_080683.3

p.G1364R

c.4090G>A

1 paper

NM_080683.3

p.K1362R

c.4085A>G

1 paper

NM_080683.3

p.S1357F

c.4070C>T

5 papers

NM_080683.3

p.F1356L

c.4068T>A

5 papers

NM_080683.3

p.F1356L

c.4068T>G

5 papers

NM_080683.3

p.F1356L

c.4066T>C

2 papers

NM_080683.3

p.N1374fs

c.4120_4121fs

1 paper

NM_080683.3

p.I1380L

c.4138A>C

1 paper

NM_080683.3

p.I1380L

c.4138A>T

1 paper

NM_080683.3

p.T1383M

c.4148C>T

1 paper

NM_080683.3

p.V1390L

c.4168G>C

1 paper

NM_080683.3

p.V1390F

c.4168G>T