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.N699K

c.2097T>G

Surrounding Variants

1 paper

NM_000492.4

p.N699K

c.2097T>A

1 paper

NM_000492.4

p.N699S

c.2096A>G

2 papers

NM_000492.4

p.N699I

c.2096A>T

2 papers

NM_000492.4

p.S700P

c.2098T>C

12 papers

NM_000492.4

p.S700A

c.2098T>G

2 papers

NM_000492.4

p.S700Y

c.2099C>A

3 papers

NM_000492.4

p.K698R

c.2093A>G

1 paper

NM_000492.4

p.I701F

c.2101A>T

1 paper

NM_000492.4

p.K698E

c.2092A>G

1 paper

NM_000492.4

p.L702I

c.2104C>A

4 papers

NM_000492.4

p.L702insFs

c.2104_2105insA

1 paper

NM_000492.4

p.L702_N706delFs

c.2105_2117del13