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

168 papers

NM_000492.4

p.Q493*

c.1477C>T

Surrounding Variants

3 papers

NM_000492.4

p.Q493fs

c.1477_1478fs

2 papers

NM_000492.4

p.Q493fs

c.1477_1478fs

7 papers

NM_000492.4

p.Q493P

c.1478A>C

17 papers

NM_000492.4

p.Q493R

c.1478A>G

7 papers

NM_000492.4

p.Q493L

c.1478A>T

11 papers

NM_000492.4

p.Q493delFs

c.1477_1478delCA

105 papers

NM_000492.4

p.S492F

c.1475C>T

4 papers

NM_000492.4

p.Q493H

c.1479G>C

4 papers

NM_000492.4

p.Q493H

c.1479G>T

29 papers

NM_000492.4

p.S492P

c.1474T>C

1 paper

NM_000492.4

p.F494L

c.1480T>C

5 papers

NM_000492.4

p.F494V

c.1480T>G