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.L1346insFs

c.4036dupC

Surrounding Variants

1 paper

NM_000492.4

p.V1345A

c.4034T>C

8 papers

NM_000492.4

p.V1345_L1346insFs

c.4035_4038dup4

6 papers

NM_000492.4

p.L1346_H1348delFs

c.4036_4042del7

2 papers

NM_000492.4

p.L1346_S1347delFs

c.4037_4041del5

1 paper

NM_000492.4

p.L1346V

c.4036C>G

1 paper

NM_000492.4

p.L1346fs

c.4036_4037fs

1 paper

NM_000492.4

p.C1344*

c.4032T>A

1 paper

NM_000492.4

p.C1344Y

c.4031G>A

10 papers

NM_000492.4

p.C1344S

c.4031G>C

1 paper

NM_000492.4

p.L1346Q

c.4037T>A

1 paper

NM_000492.4

p.L1346insFs

c.4038dupA

10 papers

NM_000492.4

p.C1344S

c.4030T>A