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

21 papers

NM_000492.4

p.Q1291_K1292Splc

c.3873+1G>A

Surrounding Variants

1 paper

NM_000492.4

p.Q1291_K1292Splc

c.3873+1G>C

4 papers

NM_000492.4

p.Q1291_K1292Splc

c.3873+1G>T

1 paper

NM_000492.4

p.Q1291Q

c.3873G>A

47 papers

NM_000492.4

p.Q1291H

c.3873G>C

46 papers

NM_000492.4

p.Q1291H

c.3873G>T

16 papers

NM_000492.4

p.Q1291_K1292Splc

c.3873+2T>C

44 papers

NM_000492.4

p.Q1291R

c.3872A>G

16 papers

NM_000492.4

p.Q1291*

c.3871C>T

26 papers

NM_000492.4

p.P1290P

c.3870A>G

1 paper

NM_000492.4

p.P1290insFs

c.3869_3870insG

4 papers

NM_000492.4

p.P1290L

c.3869C>T

5 papers

NM_000492.4

p.P1290T

c.3868C>A