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.A252P

c.754G>C

Surrounding Variants

6 papers

NM_000492.4

p.A252T

c.754G>A

2 papers

NM_000492.4

p.A252S

c.754G>T

1 paper

NM_000492.4

p.A252delFs

c.754delG

2 papers

NM_000492.4

p.A252G

c.755C>G

1 paper

NM_000492.4

p.A252Fs

c.755delinsGCTGGGAAGATFs

3 papers

NM_000492.4

p.A252V

c.755C>T

1 paper

NM_000492.4

p.R251_A252delFs

c.753_756del4

1 paper

NM_000492.4

p.A252A

c.756T>C

1 paper

NM_000492.4

p.R251G

c.751A>G

2 papers

NM_000492.4

p.R251*

c.751A>T

2 papers

NM_000492.4

p.R251fs

c.751_752fs

11 papers

NM_000492.4

p.G253R

c.757G>A