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.T578M

c.1733C>T

Surrounding Variants

1 paper

NM_007039.4

p.D580Y

c.1738G>T

1 paper

NM_007039.4

p.A575T

c.1723G>A

1 paper

NM_007039.4

p.S582F

c.1745C>T

1 paper

NM_007039.4

p.R583C

c.1747C>T

1 paper

NM_007039.4

p.R583H

c.1748G>A

1 paper

NM_007039.4

p.Y569delFs

c.1705_1706delTA

4 papers

NM_007039.4

p.Y569H

c.1705T>C

1 paper

NM_007039.4

p.Y569fs

c.1705_1706fs

1 paper

NM_007039.4

p.R564W

c.1690C>T

1 paper

NM_007039.4

p.R597W

c.1789C>T

1 paper

NM_007039.4

p.S554Y

c.1661C>A

1 paper

NM_007039.4

p.P623L

c.1868C>T