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

2 papers

NM_000492.4

p.A800V

c.2399C>T

Surrounding Variants

2 papers

NM_000492.4

p.A800E

c.2399C>A

13 papers

NM_000492.4

p.A800G

c.2399C>G

1 paper

NM_000492.4

p.A800S

c.2398G>T

2 papers

NM_000492.4

p.N801S

c.2402A>G

1 paper

NM_000492.4

p.Q799R

c.2396A>G

4 papers

NM_000492.4

p.N801I

c.2402A>T

6 papers

NM_000492.4

p.Q799K

c.2395C>A

4 papers

NM_000492.4

p.N801K

c.2403C>A

4 papers

NM_000492.4

p.N801K

c.2403C>G

4 papers

NM_000492.4

p.Q799*

c.2395C>T

2 papers

NM_000492.4

p.L802V

c.2404T>G

3 papers

NM_000492.4

p.P798R

c.2393C>G