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.I755F

c.2263A>T

Surrounding Variants

1 paper

NM_000492.4

p.I755V

c.2263A>G

1 paper

NM_000492.4

p.V754V

c.2262G>C

2 papers

NM_000492.4

p.I755M

c.2265C>G

79 papers

NM_000492.4

p.V754M

c.2260G>A

1 paper

NM_000492.4

p.V754L

c.2260G>C

5 papers

NM_000492.4

p.V754delFs

c.2261delT

4 papers

NM_000492.4

p.S753R

c.2259C>A

4 papers

NM_000492.4

p.S753R

c.2259C>G

1 paper

NM_000492.4

p.S753S

c.2259C>T

2 papers

NM_000492.4

p.S756I

c.2267G>T

1 paper

NM_000492.4

p.S753N

c.2258G>A

4 papers

NM_000492.4

p.S753R

c.2257A>C