Varaico: Literature-Extracted Genetic Variants

PTPN21

110 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell gro...

Pfam Domains

FERM_Naa 27–90UCSCFERM N-terminal domain

FERM_Maa 106–222UCSCFERM central domain

FERM_Caa 226–312UCSCFERM C-terminal PH-like domain

Y_phosphataseaa 921–1166UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 21

HGNC Alias Symbols

PTPD1; PTPRL10

Papers

RefSeq ID

Protein change

DNA change

1–12 of 140 variants

6 papers

NM_007039.4

p.C1108S

c.3322T>A

6 papers

NM_007039.4

p.C1108S

c.3323G>C

4 papers

NM_007039.4

p.Y569H

c.1705T>C

3 papers

NM_007039.4

p.V936A

c.2807T>C

3 papers

NM_007039.4

p.P1102L

c.3305C>T

2 papers

NM_007039.4

p.Y68C

c.203A>G

2 papers

NM_007039.4

p.L385F

c.1153C>T

2 papers

NM_007039.4

p.R436W

c.1306C>T

2 papers

NM_007039.4

p.A487T

c.1459G>A

2 papers

NM_007039.4

p.A626T

c.1876G>A

2 papers

NM_007039.4

p.A752T

c.2254G>A

2 papers

NM_007039.4

p.I849fs

c.2545_2546fs