Varaico: Literature-Extracted Genetic Variants

Gene:PTPN21
Variant:p.I232V

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.I232V
c.694A>G
Surrounding Variants
1 paper
NM_007039.4
p.I232fs
c.694_695fs
1 paper
NM_007039.4
p.V243L
c.727G>T
1 paper
NM_007039.4
p.V243L
c.727G>C
1 paper
NM_007039.4
p.K246K
c.738G>A
1 paper
NM_007039.4
p.F254L
c.760T>C
1 paper
NM_007039.4
p.F254L
c.762T>G
1 paper
NM_007039.4
p.F254L
c.762T>A
1 paper
NM_007039.4
p.Q209L
c.626A>T
1 paper
NM_007039.4
p.E204fs
c.610_611fs
1 paper
NM_007039.4
p.A189S
c.565G>T
1 paper
NM_007039.4
p.F268L
c.802T>C
1 paper
NM_007039.4
p.F268L
c.804T>G
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