Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.P50S

TF

1,579 papers

RefSeq Summary

This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homolog...

Pfam Domains

Transferrinaa 25–347UCSCTransferrin
Transferrinaa 361–683UCSCTransferrin

Gene Aliases

HGNC Name

transferrin

HGNC Alias Symbols

PRO1557; PRO2086

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001063.4
p.P50S
c.148C>T
Surrounding Variants
1 paper
NM_001063.4
p.P50_D52delFs
c.149_156del8
1 paper
NM_001063.4
p.P50R
c.149C>G
1 paper
NM_001063.4
p.P50P
c.150A>G
2 papers
NM_001063.4
p.I49T
c.146T>C
1 paper
NM_001063.4
p.S51A
c.151T>G
2 papers
NM_001063.4
p.S51S
c.153C>T
2 papers
NM_001063.4
p.D52A
c.155A>C
1 paper
NM_001063.4
p.S47R
c.139A>C
1 paper
NM_001063.4
p.G53S
c.157G>A
1 paper
NM_001063.4
p.G53R
c.157G>C
1 paper
NM_001063.4
p.K46I
c.137A>T
1 paper
NM_001063.4
p.P54delFs
c.161delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."