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.S678delFs

c.2032_2033delTC

Surrounding Variants

2 papers

NM_000492.4

p.V677I

c.2029G>A

1 paper

NM_000492.4

p.V677fs

c.2029_2030fs

1 paper

NM_000492.4

p.V677A

c.2030T>C

1 paper

NM_000492.4

p.P676insFs

c.2028dupT

5 papers

NM_000492.4

p.P676A

c.2026C>G

6 papers

NM_000492.4

p.P676S

c.2026C>T

1 paper

NM_000492.4

p.S678T

c.2032T>A

3 papers

NM_000492.4

p.S678F

c.2033C>T

2 papers

NM_000492.4

p.P676insFs

c.2027_2028insC

1 paper

NM_000492.4

p.A675G

c.2024C>G

2 papers

NM_000492.4

p.W679R

c.2035T>A

2 papers

NM_000492.4

p.W679R

c.2035T>C