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.F1264L

c.3790T>C

Surrounding Variants

1 paper

NM_080683.3

p.F1264L

c.3792C>A

1 paper

NM_080683.3

p.F1264L

c.3792C>G

1 paper

NM_080683.3

p.H1268R

c.3803A>G

1 paper

NM_080683.3

p.Q1272H

c.3816A>C

1 paper

NM_080683.3

p.Q1272H

c.3816A>T

1 paper

NM_080683.3

p.W1274R

c.3820T>A

1 paper

NM_080683.3

p.W1274R

c.3820T>C

4 papers

NM_080683.3

p.W1274C

c.3822G>C

4 papers

NM_080683.3

p.W1274C

c.3822G>T

1 paper

NM_080683.3

p.Q1275R

c.3824A>G

2 papers

NM_080683.3

p.E1252G

c.3755A>G

2 papers

NM_080683.3

p.E1252K

c.3754G>A