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

41 papers

NM_000492.4

p.S660A

c.1978T>G

Surrounding Variants

3 papers

NM_000492.4

p.S660T

c.1978T>A

4 papers

NM_000492.4

p.S660*

c.1979C>A

4 papers

NM_000492.4

p.S660*

c.1979C>G

2 papers

NM_000492.4

p.I661delFs

c.1981delA

1 paper

NM_000492.4

p.S660S

c.1980A>G

1 paper

NM_000492.4

p.N659fs

c.1975_1976fs

4 papers

NM_000492.4

p.I661V

c.1981A>G

2 papers

NM_000492.4

p.N659_L662delFs

c.1977_1986del10

3 papers

NM_000492.4

p.I661delFs

c.1982delT

1 paper

NM_000492.4

p.I661fs

c.1981_1982fs

2 papers

NM_000492.4

p.R658S

c.1974A>C

2 papers

NM_000492.4

p.R658S

c.1974A>T