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.S1213C

c.3638C>G

Surrounding Variants

1 paper

NM_080683.3

p.K1216_H1218delins

c.3648_3653delinsGTCTGT

1 paper

NM_080683.3

p.R1222H

c.3665G>A

1 paper

NM_080683.3

p.R1222P

c.3665G>C

1 paper

NM_080683.3

p.L1225M

c.3673C>A

2 papers

NM_080683.3

p.I1228T

c.3683T>C

1 paper

NM_080683.3

p.K1197N

c.3591A>C

1 paper

NM_080683.3

p.K1197N

c.3591A>T

1 paper

NM_080683.3

p.G1238fs

c.3712_3713fs

2 papers

NM_080683.3

p.E1252K

c.3754G>A

2 papers

NM_080683.3

p.E1252G

c.3755A>G

1 paper

NM_080683.3

p.F1264L

c.3790T>C

1 paper

NM_080683.3

p.F1264L

c.3792C>A