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.L1600H

c.4799T>A

Surrounding Variants

1 paper

NM_080683.3

p.A1578S

c.4732G>T

1 paper

NM_080683.3

p.E1544*

c.4630G>T

1 paper

NM_080683.3

p.A1543A

c.4629A>G

3 papers

NM_080683.3

p.V1531I

c.4591G>A

1 paper

NM_080683.3

p.E1524*

c.4570G>T

9 papers

NM_080683.3

p.I1522M

c.4566A>G

1 paper

NM_080683.3

p.D1519G

c.4556A>G

2 papers

NM_080683.3

p.K1503K

c.4509A>G

1 paper

NM_080683.3

p.S1615R

c.4843A>C

1 paper

NM_080683.3

p.S1615R

c.4845T>A

1 paper

NM_080683.3

p.S1615R

c.4845T>G

1 paper

NM_080683.3

p.E1625K

c.4873G>A