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

23 papers

NM_000492.4

p.V456F

c.1366G>T

Surrounding Variants

1 paper

NM_000492.4

p.V456L

c.1366G>C

3 papers

NM_000492.4

p.V456delFs

c.1367delT

1 paper

NM_000492.4

p.V456fs

c.1366_1367fs

3 papers

NM_000492.4

p.A455A

c.1365G>A

1 paper

NM_000492.4

p.A455A

c.1365G>C

9 papers

NM_000492.4

p.A455A

c.1365G>T

61 papers

NM_000492.4

p.V456A

c.1367T>C

1 paper

NM_000492.4

p.A457_T460del4

c.1369_1379del12

670 papers

NM_000492.4

p.A455E

c.1364C>A

2 papers

NM_000492.4

p.A455G

c.1364C>G

13 papers

NM_000492.4

p.A455V

c.1364C>T

8 papers

NM_000492.4

p.V456delFs

c.1366delG