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

1 paper

NM_000492.4

p.F687L

c.2061T>A

Surrounding Variants

1 paper

NM_000492.4

p.F687L

c.2061T>G

1 paper

NM_000492.4

p.K688Q

c.2062A>C

4 papers

NM_000492.4

p.K688*

c.2062A>T

1 paper

NM_000492.4

p.Q689delFs

c.2065_2066delCA

1 paper

NM_000492.4

p.F687L

c.2059T>C

1 paper

NM_000492.4

p.Q689_T690del2

c.2065_2069del6

15 papers

NM_000492.4

p.S686Y

c.2057C>A

1 paper

NM_000492.4

p.S686insFs

c.2057_2058insA

1 paper

NM_000492.4

p.Q689_T690insFs

c.2066_2070dup5

2 papers

NM_000492.4

p.S686_F687insFs

c.2058_2061dup4

4 papers

NM_000492.4

p.Q689*

c.2065C>T

2 papers

NM_000492.4

p.S686Fs

c.2057_2058delinsAFs