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.S28R

c.84T>A

Surrounding Variants

1 paper

NM_080683.3

p.S28R

c.84T>G

1 paper

NM_080683.3

p.S28R

c.82A>C

1 paper

NM_080683.3

p.Q27Q

c.81A>G

1 paper

NM_080683.3

p.N26D

c.76A>G

1 paper

NM_080683.3

p.L32F

c.94C>T

1 paper

NM_080683.3

p.E34*

c.100G>T

1 paper

NM_080683.3

p.E34D

c.102A>C

1 paper

NM_080683.3

p.E34D

c.102A>T

1 paper

NM_080683.3

p.K38T

c.113A>C

1 paper

NM_080683.3

p.E18G

c.53A>G

1 paper

NM_080683.3

p.V39I

c.115G>A

1 paper

NM_080683.3

p.G13D

c.38G>A