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.K297R

c.890A>G

Surrounding Variants

1 paper

NM_080683.3

p.A300delFs

c.898delG

1 paper

NM_080683.3

p.A300fs

c.898_899fs

1 paper

NM_080683.3

p.S294F

c.881C>T

1 paper

NM_080683.3

p.D291H

c.871G>C

1 paper

NM_080683.3

p.I290I

c.870T>C

4 papers

NM_080683.3

p.G289S

c.865G>A

1 paper

NM_080683.3

p.L306_C307insFs

c.918_919insA

1 paper

NM_080683.3

p.P286T

c.856C>A

1 paper

NM_080683.3

p.P286fs

c.856_857fs

1 paper

NM_080683.3

p.A309T

c.925G>A

1 paper

NM_080683.3

p.A309D

c.926C>A

1 paper

NM_080683.3

p.K285fs

c.853_854fs