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.T250S

c.748A>T

Surrounding Variants

1 paper

NM_001105244.2

p.T251T

c.753C>A

1 paper

NM_001105244.2

p.R253*

c.757C>T

1 paper

NM_001105244.2

p.I242I

c.726T>A

1 paper

NM_001105244.2

p.R239G

c.715C>G

1 paper

NM_001105244.2

p.E265_G266delins

c.795_797delinsGGT

1 paper

NM_001105244.2

p.R226Q

c.677G>A

1 paper

NM_001105244.2

p.R226*

c.676C>T

1 paper

NM_001105244.2

p.V278delFs

c.832_833delGT

1 paper

NM_001105244.2

p.V283I

c.847G>A

1 paper

NM_001105244.2

p.G341V

c.1022G>T

1 paper

NM_001105244.2

p.Y349delFs

c.1045_1046delTA

1 paper

NM_001105244.2

p.E360D

c.1080G>C