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

7 papers

NM_000492.4

p.K684delFs

c.2051_2052delAA

Surrounding Variants

2 papers

NM_000492.4

p.T682K

c.2045C>A

104 papers

NM_000492.4

p.K684insFs

c.2052dupA

70 papers

NM_000492.4

p.K684delFs

c.2052delA

2 papers

NM_000492.4

p.T682insFs

c.2045dupC

3 papers

NM_000492.4

p.T682fs

c.2044_2045fs

3 papers

NM_000492.4

p.T682A

c.2044A>G

3 papers

NM_000492.4

p.T682delFs

c.2045delC

1 paper

NM_000492.4

p.K683E

c.2047A>G

2 papers

NM_000492.4

p.K683R

c.2048A>G

27 papers

NM_000492.4

p.E681V

c.2042A>T

2 papers

NM_000492.4

p.K684_Q685delFs

c.2052_2055del4

1 paper

NM_000492.4

p.E681K

c.2041G>A