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

7 papers

NM_000492.4

p.Q98Q

c.294G>A

Surrounding Variants

1 paper

NM_000492.4

p.Q98H

c.294G>C

1 paper

NM_000492.4

p.Q98H

c.294G>T

7 papers

NM_000492.4

p.Q98P

c.293A>C

97 papers

NM_000492.4

p.Q98R

c.293A>G

7 papers

NM_000492.4

p.P99A

c.295C>G

1 paper

NM_000492.4

p.P99S

c.295C>T

1 paper

NM_000492.4

p.L100delFs

c.299_300delTC

6 papers

NM_000492.4

p.Q98K

c.292C>A

2 papers

NM_000492.4

p.P99R

c.296C>G

44 papers

NM_000492.4

p.Q98*

c.292C>T

35 papers

NM_000492.4

p.P99L

c.296C>T

4 papers

NM_000492.4

p.L100V

c.298C>G