Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R560Splc

CFTR

9,737 papers

RefSeq Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and co...

Pfam Domains

ABC_membraneaa 81–350UCSCABC transporter transmembrane region
ABC_tranaa 441–576UCSCABC transporter
CFTR_Raa 639–849UCSCCystic fibrosis TM conductance regulator (CFTR), regulator domain
ABC_membraneaa 862–1147UCSCABC transporter transmembrane region
ABC_tranaa 1227–1374UCSCABC transporter

Gene Aliases

HGNC Name

CF transmembrane conductance regulator

HGNC Previous Symbols

CF; ABCC7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
18 papers
NM_000492.4
p.R560Splc
c.1679+1G>C
Surrounding Variants
62 papers
NM_000492.4
p.R560S
c.1680A>C
62 papers
NM_000492.4
p.R560S
c.1680A>T
10 papers
NM_000492.4
p.R560Splc
c.1679+1G>A
73 papers
NM_000492.4
p.R560K
c.1679G>A
407 papers
NM_000492.4
p.R560T
c.1679G>C
16 papers
NM_000492.4
p.R560Splc
c.1679+2T>C
8 papers
NM_000492.4
p.R560G
c.1678A>G
2 papers
NM_000492.4
p.R560Splc
c.1679+5A>G
9 papers
NM_000492.4
p.A559E
c.1676C>A
9 papers
NM_000492.4
p.A559V
c.1676C>T
2 papers
NM_000492.4
p.A559delFs
c.1677delA
155 papers
NM_000492.4
p.A559T
c.1675G>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."