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

12 papers

NM_000492.4

p.L1156L

c.3468G>A

Surrounding Variants

22 papers

NM_000492.4

p.L1156F

c.3468G>C

22 papers

NM_000492.4

p.L1156F

c.3468G>T

6 papers

NM_000492.4

p.L1156_M1157Splc

c.3468+1G>A

6 papers

NM_000492.4

p.L1156_M1157Splc

c.3468+1G>T

2 papers

NM_000492.4

p.L1156L

c.3466T>C

1 paper

NM_000492.4

p.L1156_M1157Splc

c.3468+2T>C

1 paper

NM_000492.4

p.L1156_M1157insTA

c.3466_3470ins6

1 paper

NM_000492.4

p.S1155C

c.3463A>T

7 papers

NM_000492.4

p.L1156_M1157Splc

c.3468+5G>A

2 papers

NM_000492.4

p.D1154E

c.3462T>A

1 paper

NM_000492.4

p.L1156_M1157Splc

c.3468+6T>C

2 papers

NM_000492.4

p.D1154E

c.3462T>G