Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.P54H

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.P54H
c.161C>A
Surrounding Variants
1 paper
NM_001063.4
p.P54R
c.161C>G
1 paper
NM_001063.4
p.P54L
c.161C>T
1 paper
NM_001063.4
p.P54T
c.160C>A
1 paper
NM_001063.4
p.P54insFs
c.160_161insG
1 paper
NM_001063.4
p.P54_S55del1
c.161_163delCCA
1 paper
NM_001063.4
p.P54delFs
c.161delC
3 papers
NM_001063.4
p.S55N
c.164G>A
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.S55R
c.165T>A
2 papers
NM_001063.4
p.D52A
c.155A>C
3 papers
NM_001063.4
p.V56D
c.167T>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."