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

1 paper

NM_000492.4

p.L602L

c.1804T>C

Surrounding Variants

2 papers

NM_000492.4

p.L602S

c.1805T>C

4 papers

NM_000492.4

p.V603delFs

c.1807delG

3 papers

NM_000492.4

p.L602F

c.1806G>C

3 papers

NM_000492.4

p.L602F

c.1806G>T

8 papers

NM_000492.4

p.I601T

c.1802T>C

4 papers

NM_000492.4

p.I601V

c.1801A>G

27 papers

NM_000492.4

p.I601F

c.1801A>T

8 papers

NM_000492.4

p.V603I

c.1807G>A

2 papers

NM_000492.4

p.V603L

c.1807G>C

8 papers

NM_000492.4

p.V603F

c.1807G>T

1 paper

NM_000492.4

p.V603fs

c.1807_1808fs

3 papers

NM_000492.4

p.R600S

c.1800G>C