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.R600S

c.1800G>C

Surrounding Variants

3 papers

NM_000492.4

p.R600S

c.1800G>T

4 papers

NM_000492.4

p.I601V

c.1801A>G

27 papers

NM_000492.4

p.I601F

c.1801A>T

9 papers

NM_000492.4

p.R600G

c.1798A>G

2 papers

NM_000492.4

p.R600delFs

c.1800delG

8 papers

NM_000492.4

p.I601T

c.1802T>C

1 paper

NM_000492.4

p.T599T

c.1797T>A

2 papers

NM_000492.4

p.T599N

c.1796C>A

4 papers

NM_000492.4

p.T599S

c.1796C>G

1 paper

NM_000492.4

p.L602L

c.1804T>C

2 papers

NM_000492.4

p.T599A

c.1795A>G

5 papers

NM_000492.4

p.T599S

c.1795A>T