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.I497S

c.1490T>G

Surrounding Variants

1 paper

NM_000492.4

p.I497N

c.1490T>A

1 paper

NM_000492.4

p.I497T

c.1490T>C

6 papers

NM_000492.4

p.I497V

c.1489A>G

3 papers

NM_000492.4

p.M498V

c.1492A>G

25 papers

NM_000492.4

p.W496*

c.1488G>A

3 papers

NM_000492.4

p.W496C

c.1488G>C

4 papers

NM_000492.4

p.W496C

c.1488G>T

25 papers

NM_000492.4

p.W496*

c.1487G>A

2 papers

NM_000492.4

p.M498T

c.1493T>C

4 papers

NM_000492.4

p.M498I

c.1494G>A

4 papers

NM_000492.4

p.M498I

c.1494G>C

4 papers

NM_000492.4

p.M498I

c.1494G>T