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.L172P

c.515T>C

Surrounding Variants

1 paper

NM_000492.4

p.L172L

c.516A>G

7 papers

NM_000492.4

p.L172I

c.514C>A

2 papers

NM_000492.4

p.L172V

c.514C>G

2 papers

NM_000492.4

p.L172L

c.514C>T

1 paper

NM_000492.4

p.D173N

c.517G>A

3 papers

NM_000492.4

p.K174_S176delFs

c.522_526del5

4 papers

NM_000492.4

p.D173delFs

c.519delT

4 papers

NM_000492.4

p.K174_I177del4

c.520_530del12

1 paper

NM_000492.4

p.V171D

c.512T>A

4 papers

NM_000492.4

p.V171I

c.511G>A

1 paper

NM_000492.4

p.V171F

c.511G>T

1 paper

NM_000492.4

p.D173E

c.519T>A