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.I177L

c.529A>C

Surrounding Variants

1 paper

NM_000492.4

p.I177insFs

c.529_530insC

3 papers

NM_000492.4

p.I177fs

c.529_530fs

6 papers

NM_000492.4

p.I177insFs

c.531dupT

7 papers

NM_000492.4

p.I177F

c.529A>T

18 papers

NM_000492.4

p.I177delFs

c.531delT

5 papers

NM_000492.4

p.I177fs

c.529_530fs

7 papers

NM_000492.4

p.I177T

c.530T>C

1 paper

NM_000492.4

p.S176R

c.528T>G

1 paper

NM_000492.4

p.S176_I177insFs

c.528_529insG

2 papers

NM_000492.4

p.S176N

c.527G>A

6 papers

NM_000492.4

p.S176T

c.527G>C

2 papers

NM_000492.4

p.S176I

c.527G>T