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.S313T

c.937T>A

Surrounding Variants

2 papers

NM_000492.4

p.S313P

c.937T>C

1 paper

NM_000492.4

p.F312L

c.936C>A

1 paper

NM_000492.4

p.F312L

c.936C>G

1 paper

NM_000492.4

p.F312F

c.936C>T

1 paper

NM_000492.4

p.S313_A326del14

c.937_977del42

1 paper

NM_000492.4

p.S313_G314insFs

c.939_940insT

1 paper

NM_000492.4

p.S313S

c.939A>G

2 papers

NM_000492.4

p.G314delFs

c.942delG

1 paper

NM_000492.4

p.F312C

c.935T>G

15 papers

NM_000492.4

p.G314R

c.940G>A

15 papers

NM_000492.4

p.G314R

c.940G>C

3 papers

NM_000492.4

p.G314W

c.940G>T