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

3 papers

NM_000492.4

p.I148L

c.442A>C

Surrounding Variants

3 papers

NM_000492.4

p.I148fs

c.442_443fs

1 paper

NM_000492.4

p.I148V

c.442A>G

3 papers

NM_000492.4

p.I148F

c.442A>T

5 papers

NM_000492.4

p.I148fs

c.442_443fs

6 papers

NM_000492.4

p.H147Q

c.441C>A

6 papers

NM_000492.4

p.H147Q

c.441C>G

23 papers

NM_000492.4

p.I148delFs

c.442delA

9 papers

NM_000492.4

p.I148N

c.443T>A

293 papers

NM_000492.4

p.I148T

c.443T>C

4 papers

NM_000492.4

p.I148S

c.443T>G

6 papers

NM_000492.4

p.H147P

c.440A>C

1 paper

NM_000492.4

p.H147Y

c.439C>T