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

2 papers

NM_000492.4

p.A959delFs

c.2876delC

Surrounding Variants

1 paper

NM_000492.4

p.A959T

c.2875G>A

1 paper

NM_000492.4

p.A959fs

c.2875_2876fs

1 paper

NM_000492.4

p.A959_P960insA

c.2875_2879ins3

3 papers

NM_000492.4

p.A959fs

c.2875_2876fs

9 papers

NM_000492.4

p.A959delFs

c.2875delG

10 papers

NM_000492.4

p.A959V

c.2876C>T

1 paper

NM_000492.4

p.Q958R

c.2873A>G

2 papers

NM_000492.4

p.P960delFs

c.2879delC

1 paper

NM_000492.4

p.Q958K

c.2872C>A

7 papers

NM_000492.4

p.P960_M961insA

c.2878_2882ins3

1 paper

NM_000492.4

p.P960S

c.2878C>T

2 papers

NM_000492.4

p.P960_M961delFs

c.2879_2882del4