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

8 papers

NM_000492.4

p.Q1330delFs

c.3988_3989delCA

Surrounding Variants

1 paper

NM_000492.4

p.E1329_Q1330insFs

c.3987_3988insG

2 papers

NM_000492.4

p.Q1330_F1331del2

c.3988_3992del6

5 papers

NM_000492.4

p.E1329Q

c.3985G>C

1 paper

NM_000492.4

p.E1329fs

c.3985_3986fs

6 papers

NM_000492.4

p.E1329_Q1330ins4

c.3985_3989ins12

2 papers

NM_000492.4

p.I1328M

c.3984A>G

1 paper

NM_000492.4

p.Q1330fs

c.3988_3989fs

2 papers

NM_000492.4

p.Q1330E

c.3988C>G

9 papers

NM_000492.4

p.Q1330*

c.3988C>T

3 papers

NM_000492.4

p.Q1330fs

c.3988_3989fs

1 paper

NM_000492.4

p.I1328K

c.3983T>A

3 papers

NM_000492.4

p.I1328T

c.3983T>C