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.P1378L

c.4133C>T

Surrounding Variants

1 paper

NM_000492.4

p.V1379I

c.4135G>A

1 paper

NM_000492.4

p.V1379L

c.4135G>C

1 paper

NM_000492.4

p.V1379L

c.4135G>T

1 paper

NM_000492.4

p.D1377G

c.4130A>G

3 papers

NM_000492.4

p.V1379A

c.4136T>C

1 paper

NM_000492.4

p.D1377N

c.4129G>A

1 paper

NM_000492.4

p.V1379Splc

c.4136+1G>A

15 papers

NM_000492.4

p.D1377H

c.4129G>C

2 papers

NM_000492.4

p.D1377Y

c.4129G>T

3 papers

NM_000492.4

p.V1379Splc

c.4136+2T>G

2 papers

NM_000492.4

p.L1376V

c.4126T>G

1 paper

NM_000492.4

p.L1376fs

c.4126_4127fs