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.S168P

c.502T>C

Surrounding Variants

1 paper

NM_000492.4

p.S168delFs

c.503_504delCA

28 papers

NM_000492.4

p.S168*

c.503C>A

28 papers

NM_000492.4

p.S168*

c.503C>G

5 papers

NM_000492.4

p.S168L

c.503C>T

1 paper

NM_000492.4

p.S168_S169insFs

c.504_505ins4

1 paper

NM_000492.4

p.S168S

c.504A>G

3 papers

NM_000492.4

p.L167R

c.500T>G

1 paper

NM_000492.4

p.S169insFs

c.506dupG

4 papers

NM_000492.4

p.S169G

c.505A>G

1 paper

NM_000492.4

p.S169fs

c.505_506fs

1 paper

NM_000492.4

p.L167M

c.499C>A

1 paper

NM_000492.4

p.L167L

c.499C>T