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

2 papers

NM_002840.5

p.V389M

c.1165G>A

Surrounding Variants

2 papers

NM_002840.5

p.R388H

c.1163G>A

1 paper

NM_002840.5

p.R388_V389delFs

c.1164_1165delCG

1 paper

NM_002840.5

p.Y385C

c.1154A>G

2 papers

NM_002840.5

p.P381L

c.1142C>T

2 papers

NM_002840.5

p.P381S

c.1141C>T

1 paper

NM_002840.5

p.P399L

c.1196C>T

1 paper

NM_002840.5

p.E402K

c.1204G>A

1 paper

NM_002840.5

p.Y374H

c.1120T>C

1 paper

NM_002840.5

p.R373C

c.1117C>T

1 paper

NM_002840.5

p.R405L

c.1214G>T

1 paper

NM_002840.5

p.R407C

c.1219C>T

3 papers

NM_002840.5

p.T408M

c.1223C>T