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

1–12 of 411 variants

9 papers

NM_080683.3

p.I1522M

c.4566A>G

6 papers

NM_080683.3

p.Y2081D

c.6241T>G

5 papers

NM_080683.3

p.F1356L

c.4066T>C

5 papers

NM_080683.3

p.F1356L

c.4068T>A

5 papers

NM_080683.3

p.F1356L

c.4068T>G

4 papers

NM_080683.3

p.G289S

c.865G>A

4 papers

NM_080683.3

p.G1063E

c.3188G>A

4 papers

NM_080683.3

p.W1274C

c.3822G>C

4 papers

NM_080683.3

p.W1274C

c.3822G>T

3 papers

NM_080683.3

p.R12W

c.34C>T

3 papers

NM_080683.3

p.K285delFs

c.855delA

3 papers

NM_080683.3

p.R402*

c.1204C>T