Varaico: Literature-Extracted Genetic Variants

PTPRM

93 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

MAMaa 27–183UCSCMAM domain, meprin/A5/mu

igaa 192–273UCSCImmunoglobulin domain

fn3aa 486–582UCSCFibronectin type III domain

Fn3_PTPRUaa 582–726UCSCReceptor-type tyrosine-protein phosphatase U Fn3 domain

Y_phosphataseaa 923–1153UCSCProtein-tyrosine phosphatase

Y_phosphataseaa 1213–1447UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type M

HGNC Previous Symbol

PTPRL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001105244.2

p.S39R

c.117T>G

Surrounding Variants

3 papers

NM_001105244.2

p.S39R

c.117T>A

3 papers

NM_001105244.2

p.S39R

c.115A>C

1 paper

NM_001105244.2

p.D45G

c.134A>G

1 paper

NM_001105244.2

p.P57L

c.170C>T