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.G124S

c.370G>A

Surrounding Variants

4 papers

NM_000492.4

p.G124R

c.370G>C

1 paper

NM_000492.4

p.G124C

c.370G>T

1 paper

NM_000492.4

p.G124delFs

c.371delG

2 papers

NM_000492.4

p.G124D

c.371G>A

1 paper

NM_000492.4

p.G124A

c.371G>C

2 papers

NM_000492.4

p.G124G

c.372C>T

1 paper

NM_000492.4

p.I125V

c.373A>G

3 papers

NM_000492.4

p.L123V

c.367C>G

1 paper

NM_000492.4

p.L123L

c.367C>T

1 paper

NM_000492.4

p.L123fs

c.367_368fs

1 paper

NM_000492.4

p.I125_G126del2

c.373_377del6

185 papers

NM_000492.4

p.Y122*

c.366T>A