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.S1362S

c.4086T>C

Surrounding Variants

3 papers

NM_000492.4

p.K1363Q

c.4087A>C

8 papers

NM_000492.4

p.K1363*

c.4087A>T

2 papers

NM_000492.4

p.S1362N

c.4085G>A

1 paper

NM_000492.4

p.S1362T

c.4085G>C

6 papers

NM_000492.4

p.S1362insFs

c.4086dupT

3 papers

NM_000492.4

p.A1364delFs

c.4090delG

2 papers

NM_000492.4

p.L1361V

c.4081C>G

18 papers

NM_000492.4

p.A1364V

c.4091C>T

1 paper

NM_000492.4

p.A1364A

c.4092G>A

1 paper

NM_000492.4

p.K1365delFs

c.4094delA

2 papers

NM_000492.4

p.K1365_I1366del2

c.4093_4097del6

2 papers

NM_000492.4

p.V1360_L1361insFs

c.4080_4081insGG