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.Q1691*

c.5071C>T

Surrounding Variants

1 paper

NM_080683.3

p.E1695K

c.5083G>A

1 paper

NM_080683.3

p.Y1710H

c.5128T>C

1 paper

NM_080683.3

p.Q1712*

c.5134C>T

1 paper

NM_080683.3

p.K1640fs

c.4918_4919fs

1 paper

NM_080683.3

p.S1639_K1640insFs

c.4917_4918insA

1 paper

NM_080683.3

p.E1625K

c.4873G>A

1 paper

NM_080683.3

p.E1625Q

c.4873G>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.S1615R

c.4843A>C

1 paper

NM_080683.3

p.L1600H

c.4799T>A

1 paper

NM_080683.3

p.A1578S

c.4732G>T