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

8 papers

NM_000492.4

p.Y161S

c.482A>C

Surrounding Variants

11 papers

NM_000492.4

p.Y161C

c.482A>G

2 papers

NM_000492.4

p.Y161N

c.481T>A

16 papers

NM_000492.4

p.Y161D

c.481T>G

2 papers

NM_000492.4

p.Y161delFs

c.482delA

1 paper

NM_000492.4

p.Y161fs

c.481_482fs

1 paper

NM_000492.4

p.K162Q

c.484A>C

14 papers

NM_000492.4

p.K162E

c.484A>G

1 paper

NM_000492.4

p.K162*

c.484A>T

1 paper

NM_000492.4

p.I160I

c.480T>A

3 papers

NM_000492.4

p.I160T

c.479T>C

3 papers

NM_000492.4

p.I160V

c.478A>G

1 paper

NM_000492.4

p.Y161delFs

c.481delT