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.V820Splc

c.2459-1G>A

Surrounding Variants

1 paper

NM_002840.5

p.R823Q

c.2468G>A

1 paper

NM_002840.5

p.V820Splc

c.2459-13C>T

1 paper

NM_002840.5

p.M833I

c.2499G>A

1 paper

NM_002840.5

p.E849Q

c.2545G>C

1 paper

NM_002840.5

p.E849*

c.2545G>T

1 paper

NM_002840.5

p.R808C

c.2422C>T

1 paper

NM_002840.5

p.A863A

c.2589G>A

1 paper

NM_002840.5

p.P865P

c.2595C>A

1 paper

NM_002840.5

p.D869_F870del2

c.2605_2609del6

1 paper

NM_002840.5

p.D869_F870del1

c.2607_2609delTTT

1 paper

NM_002840.5

p.V795I

c.2383G>A

1 paper

NM_002840.5

p.D873insFs

c.2618_2619insA