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.Y301H

c.901T>C

Surrounding Variants

40 papers

NM_000492.4

p.Y301C

c.902A>G

2 papers

NM_000492.4

p.A300A

c.900C>A

2 papers

NM_000492.4

p.A300D

c.899C>A

5 papers

NM_000492.4

p.A300G

c.899C>G

1 paper

NM_000492.4

p.A300T

c.898G>A

1 paper

NM_000492.4

p.V302M

c.904G>A

2 papers

NM_000492.4

p.A300S

c.898G>T

1 paper

NM_000492.4

p.A300delFs

c.898delG

2 papers

NM_000492.4

p.V302E

c.905T>A

2 papers

NM_000492.4

p.V302A

c.905T>C

1 paper

NM_000492.4

p.V302G

c.905T>G

2 papers

NM_000492.4

p.V302insFs

c.905_906insA