Varaico: Literature-Extracted Genetic Variants

Gene:PTPRF
Variant:p.V53M

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.V53M
c.157G>A
Surrounding Variants
1 paper
NM_002840.5
p.V53V
c.159G>C
2 papers
NM_002840.5
p.S51F
c.152C>T
1 paper
NM_002840.5
p.T57A
c.169A>G
1 paper
NM_002840.5
p.V49I
c.145G>A
1 paper
NM_002840.5
p.T57K
c.170C>A
2 papers
NM_002840.5
p.P62L
c.185C>T
1 paper
NM_002840.5
p.R63H
c.188G>A
1 paper
NM_002840.5
p.R63P
c.188G>C
1 paper
NM_002840.5
p.K69*
c.205A>T
1 paper
NM_002840.5
p.G70R
c.208G>A
1 paper
NM_002840.5
p.G70R
c.208G>C
1 paper
NM_002840.5
p.S74N
c.221G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."