Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_000492.4

p.R248*

c.742A>T

Surrounding Variants

6 papers

NM_000492.4

p.R248G

c.742A>G

5 papers

NM_000492.4

p.Y247*

c.741C>A

5 papers

NM_000492.4

p.Y247*

c.741C>G

2 papers

NM_000492.4

p.Y247Y

c.741C>T

5 papers

NM_000492.4

p.R248K

c.743G>A

18 papers

NM_000492.4

p.R248T

c.743G>C

2 papers

NM_000492.4

p.Y247C

c.740A>G

5 papers

NM_000492.4

p.R248Splc

c.743+1G>A

3 papers

NM_000492.4

p.R248Splc

c.743+1G>C

1 paper

NM_000492.4

p.R248Splc

c.743+1G>T

3 papers

NM_000492.4

p.R248Splc

c.743+2T>A

3 papers

NM_000492.4

p.R248Splc

c.743+2T>C