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.L1260R

c.3779T>G

Surrounding Variants

3 papers

NM_000492.4

p.L1260P

c.3779T>C

2 papers

NM_000492.4

p.L1260L

c.3780A>C

1 paper

NM_000492.4

p.L1260L

c.3780A>G

1 paper

NM_000492.4

p.L1260V

c.3778C>G

1 paper

NM_000492.4

p.L1261L

c.3781C>T

2 papers

NM_000492.4

p.R1259T

c.3776G>C

1 paper

NM_000492.4

p.L1260del1

c.3778_3779delCTA

1 paper

NM_000492.4

p.R1259insFs

c.3775_3776insC

1 paper

NM_000492.4

p.R1259*

c.3775A>T

1 paper

NM_000492.4

p.L1261L

c.3783G>T

2 papers

NM_000492.4

p.L1258F

c.3774G>C

2 papers

NM_000492.4

p.L1258F

c.3774G>T