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

1 paper

NM_001105244.2

p.G1393D

c.4178G>A

Surrounding Variants

2 papers

NM_001105244.2

p.E1390D

c.4170G>C

2 papers

NM_001105244.2

p.E1390D

c.4170G>T

1 paper

NM_001105244.2

p.V1399I

c.4195G>A

1 paper

NM_001105244.2

p.T1370insFs

c.4108_4109ins11

1 paper

NM_001105244.2

p.V1356G

c.4067T>G

1 paper

NM_001105244.2

p.Q1306*

c.3916C>T

1 paper

NM_001105244.2

p.G1250A

c.3749G>C

1 paper

NM_001105244.2

p.I1235I

c.3705C>T

1 paper

NM_001105244.2

p.H1227Q

c.3681T>A

1 paper

NM_001105244.2

p.H1227Q

c.3681T>G

1 paper

NM_001105244.2

p.R1225Q

c.3674G>A

1 paper

NM_001105244.2

p.I1220I

c.3660C>T