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

24 papers

NM_000492.4

p.Q996_L997Splc

c.2989-1G>A

Surrounding Variants

4 papers

NM_000492.4

p.Q996_L997Splc

c.2989-1G>T

3 papers

NM_000492.4

p.Q996_L997Splc

c.2989-2A>C

8 papers

NM_000492.4

p.Q996_L997Splc

c.2989-2A>G

2 papers

NM_000492.4

p.Q996_L997Splc

c.2989-2A>T

3 papers

NM_000492.4

p.L997del1

c.2989_2990delTTG

1 paper

NM_000492.4

p.L997fs

c.2989_2990fs

1 paper

NM_000492.4

p.Q996_L997Splc

c.2989-3C>G

1 paper

NM_000492.4

p.Q996_L997Splc

c.2989-3C>T

1 paper

NM_000492.4

p.L997S

c.2990T>C

264 papers

NM_000492.4

p.L997F

c.2991G>C

263 papers

NM_000492.4

p.L997F

c.2991G>T

2 papers

NM_000492.4

p.L998delFs

c.2993delT