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.L1258L

c.3772T>C

Surrounding Variants

3 papers

NM_000492.4

p.L1258fs

c.3772_3773fs

6 papers

NM_000492.4

p.L1258fs

c.3772_3773fs

8 papers

NM_000492.4

p.F1257L

c.3771T>A

5 papers

NM_000492.4

p.L1258*

c.3773T>A

8 papers

NM_000492.4

p.F1257L

c.3771T>G

2 papers

NM_000492.4

p.L1258F

c.3774G>C

2 papers

NM_000492.4

p.L1258F

c.3774G>T

2 papers

NM_000492.4

p.F1257C

c.3770T>G

1 paper

NM_000492.4

p.R1259insFs

c.3775_3776insC

1 paper

NM_000492.4

p.R1259*

c.3775A>T

8 papers

NM_000492.4

p.F1257L

c.3769T>C

2 papers

NM_000492.4

p.R1259T

c.3776G>C