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

8 papers

NM_000492.4

p.E588K

c.1762G>A

Surrounding Variants

3 papers

NM_000492.4

p.E588*

c.1762G>T

4 papers

NM_000492.4

p.E588G

c.1763A>G

17 papers

NM_000492.4

p.E588V

c.1763A>T

6 papers

NM_000492.4

p.F587L

c.1761T>A

6 papers

NM_000492.4

p.F587L

c.1761T>G

3 papers

NM_000492.4

p.F587S

c.1760T>C

2 papers

NM_000492.4

p.S589R

c.1765A>C

1 paper

NM_000492.4

p.S589C

c.1765A>T

10 papers

NM_000492.4

p.F587I

c.1759T>A

6 papers

NM_000492.4

p.F587L

c.1759T>C

1 paper

NM_000492.4

p.F587V

c.1759T>G

1 paper

NM_000492.4

p.F587fs

c.1759_1760fs