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.V1338insFs

c.4013_4014insT

Surrounding Variants

1 paper

NM_000492.4

p.V1338I

c.4012G>A

1 paper

NM_000492.4

p.F1337L

c.4011T>A

1 paper

NM_000492.4

p.F1337L

c.4011T>G

1 paper

NM_000492.4

p.V1338V

c.4014C>T

2 papers

NM_000492.4

p.L1339insFs

c.4015_4016insA

107 papers

NM_000492.4

p.L1339insFs

c.4016_4017insT

3 papers

NM_000492.4

p.L1339F

c.4015C>T

1 paper

NM_000492.4

p.F1337L

c.4009T>C

11 papers

NM_000492.4

p.F1337V

c.4009T>G

1 paper

NM_000492.4

p.L1339P

c.4016T>C

5 papers

NM_000492.4

p.L1339insFs

c.4016_4017insG

1 paper

NM_000492.4

p.D1336N

c.4006G>A