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.S431R

c.1291A>C

Surrounding Variants

6 papers

NM_000492.4

p.S431G

c.1291A>G

2 papers

NM_000492.4

p.F430L

c.1290C>A

2 papers

NM_000492.4

p.F430L

c.1290C>G

1 paper

NM_000492.4

p.S431I

c.1292G>T

1 paper

NM_000492.4

p.N432_S434delFs

c.1294_1300del7

2 papers

NM_000492.4

p.S431R

c.1293T>A

2 papers

NM_000492.4

p.S431R

c.1293T>G

1 paper

NM_000492.4

p.F430C

c.1289T>G

2 papers

NM_000492.4

p.F430insFs

c.1289_1290insTA

2 papers

NM_000492.4

p.F430L

c.1288T>C

3 papers

NM_000492.4

p.F430insFs

c.1288_1289insA

28 papers

NM_000492.4

p.F430insFs

c.1288_1289insTA