Varaico: Literature-Extracted Genetic Variants

PTPRF

257 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

I-setaa 33–124UCSCImmunoglobulin I-set domain

I-setaa 135–225UCSCImmunoglobulin I-set domain

I-setaa 232–315UCSCImmunoglobulin I-set domain

fn3aa 320–407UCSCFibronectin type III domain

fn3aa 415–506UCSCFibronectin type III domain

fn3aa 513–600UCSCFibronectin type III domain

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type F

HGNC Previous Symbol

LAR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002840.5

p.G1556R

c.4666G>C

Surrounding Variants

1 paper

NM_002840.5

p.R1554H

c.4661G>A

1 paper

NM_002840.5

p.S1549Splc

c.4646+39T>G

1 paper

NM_002840.5

p.S1585L

c.4754C>T

2 papers

NM_002840.5

p.C1548S

c.4643G>C

2 papers

NM_002840.5

p.C1548S

c.4642T>A

1 paper

NM_002840.5

p.E1594K

c.4780G>A

1 paper

NM_002840.5

p.V1598M

c.4792G>A

1 paper

NM_002840.5

p.A1603E

c.4808C>A

1 paper

NM_002840.5

p.R1531*

c.4591C>T

1 paper

NM_002840.5

p.L1530_R1531insC

c.4588_4592ins3

1 paper

NM_002840.5

p.R1618C

c.4852C>T

1 paper

NM_002840.5

p.N1619K

c.4857C>A