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.A209A

c.627A>G

Surrounding Variants

3 papers

NM_000492.4

p.L210I

c.628C>A

1 paper

NM_000492.4

p.A209E

c.626C>A

2 papers

NM_000492.4

p.A209V

c.626C>T

1 paper

NM_000492.4

p.L210F

c.628C>T

1 paper

NM_000492.4

p.A209T

c.625G>A

12 papers

NM_000492.4

p.A209S

c.625G>T

1 paper

NM_000492.4

p.L210H

c.629T>A

5 papers

NM_000492.4

p.L210P

c.629T>C

1 paper

NM_000492.4

p.V208V

c.624G>A

3 papers

NM_000492.4

p.V208A

c.623T>C

1 paper

NM_000492.4

p.V208G

c.623T>G

2 papers

NM_000492.4

p.A209insFs

c.625dupG