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.F87C

c.260T>G

Surrounding Variants

3 papers

NM_000492.4

p.F87S

c.260T>C

2 papers

NM_000492.4

p.L88_Y89del2

c.262_266del6

23 papers

NM_000492.4

p.F87L

c.261T>A

8 papers

NM_000492.4

p.F87I

c.259T>A

23 papers

NM_000492.4

p.F87L

c.259T>C

23 papers

NM_000492.4

p.F87L

c.261T>G

1 paper

NM_000492.4

p.F87_L88ins3

c.261_262ins9

12 papers

NM_000492.4

p.L88_L90delFs

c.264_268del5

1 paper

NM_000492.4

p.I86I

c.258C>A

2 papers

NM_000492.4

p.I86M

c.258C>G

1 paper

NM_000492.4

p.I86I

c.258C>T

2 papers

NM_000492.4

p.L88delFs

c.263delT