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

Selected Variant

1 paper

NM_007039.4

p.L647P

c.1940T>C

Surrounding Variants

1 paper

NM_007039.4

p.A665fs

c.1993_1994fs

1 paper

NM_007039.4

p.R628C

c.1882C>T

1 paper

NM_007039.4

p.A668T

c.2002G>A

2 papers

NM_007039.4

p.A626T

c.1876G>A

1 paper

NM_007039.4

p.L624L

c.1872C>T

1 paper

NM_007039.4

p.P623L

c.1868C>T

1 paper

NM_007039.4

p.S676R

c.2026A>C

1 paper

NM_007039.4

p.S676R

c.2028C>G

1 paper

NM_007039.4

p.S676R

c.2028C>A

1 paper

NM_007039.4

p.Y695Y

c.2085C>T

1 paper

NM_007039.4

p.H697Y

c.2089C>T

1 paper

NM_007039.4

p.R597W

c.1789C>T