Varaico: Literature-Extracted Genetic Variants

Gene:PTPRF
Variant:p.R448C

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.R448C
c.1342C>T
Surrounding Variants
1 paper
NM_002840.5
p.V449I
c.1345G>A
5 papers
NM_002840.5
p.Y450C
c.1349A>G
1 paper
NM_002840.5
p.R445Q
c.1334G>A
1 paper
NM_002840.5
p.R456C
c.1366C>T
1 paper
NM_002840.5
p.N460S
c.1379A>G
1 paper
NM_002840.5
p.A461G
c.1382C>G
1 paper
NM_002840.5
p.K464E
c.1390A>G
1 paper
NM_002840.5
p.K464K
c.1392G>A
2 papers
NM_002840.5
p.N466T
c.1397A>C
1 paper
NM_002840.5
p.A469A
c.1407G>A
1 paper
NM_002840.5
p.R419H
c.1256G>A
2 papers
NM_002840.5
p.R418C
c.1252C>T
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