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

3 papers

NM_000492.4

p.A1256insFs

c.3767dupC

Surrounding Variants

1 paper

NM_000492.4

p.S1255S

c.3765A>G

31 papers

NM_000492.4

p.L1258insFs

c.3773_3774insT

1 paper

NM_000492.4

p.A1256V

c.3767C>T

3 papers

NM_000492.4

p.L1258delFs

c.3773delT

79 papers

NM_000492.4

p.S1255*

c.3764C>A

79 papers

NM_000492.4

p.S1255*

c.3764C>G

12 papers

NM_000492.4

p.S1255L

c.3764C>T

1 paper

NM_000492.4

p.A1256A

c.3768T>C

206 papers

NM_000492.4

p.S1255P

c.3763T>C

8 papers

NM_000492.4

p.F1257L

c.3769T>C

1 paper

NM_000492.4

p.S1255A

c.3763T>G

1 paper

NM_000492.4

p.L1254F

c.3762A>C