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

44 papers

NM_000492.4

p.R74Q

c.221G>A

Surrounding Variants

4 papers

NM_000492.4

p.R74P

c.221G>C

1 paper

NM_000492.4

p.R74G

c.220C>G

245 papers

NM_000492.4

p.R74W

c.220C>T

1 paper

NM_000492.4

p.R74delFs

c.222delG

1 paper

NM_000492.4

p.R74_R75Fs

c.222_223delinsAFs

1 paper

NM_000492.4

p.R75_R80insFs

c.224_240dup17

8 papers

NM_000492.4

p.R75G

c.223C>G

145 papers

NM_000492.4

p.R75*

c.223C>T

2 papers

NM_000492.4

p.L73_R74insFs

c.219_220insG

266 papers

NM_000492.4

p.R75Q

c.224G>A

26 papers

NM_000492.4

p.R75L

c.224G>T

2 papers

NM_000492.4

p.L73P

c.218T>C