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.L375fs

c.1123_1124fs

Surrounding Variants

2 papers

NM_000492.4

p.L375V

c.1123T>G

1 paper

NM_000492.4

p.F374L

c.1122C>A

1 paper

NM_000492.4

p.F374L

c.1122C>G

1 paper

NM_000492.4

p.L375delFs

c.1124delT

2 papers

NM_000492.4

p.L375S

c.1124T>C

23 papers

NM_000492.4

p.L375F

c.1125A>C

23 papers

NM_000492.4

p.L375F

c.1125A>T

5 papers

NM_000492.4

p.F374S

c.1121T>C

2 papers

NM_000492.4

p.F374C

c.1121T>G

2 papers

NM_000492.4

p.Q376K

c.1126C>A

16 papers

NM_000492.4

p.K377insFs

c.1130dupA

1 paper

NM_000492.4

p.Q376_K377insFs

c.1128_1129insAA