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

4 papers

NM_000492.4

p.V1212I

c.3634G>A

Surrounding Variants

1 paper

NM_000492.4

p.V1212L

c.3634G>C

3 papers

NM_000492.4

p.V1212F

c.3634G>T

16 papers

NM_000492.4

p.V1212delFs

c.3635delT

5 papers

NM_000492.4

p.V1212fs

c.3634_3635fs

1 paper

NM_000492.4

p.V1212A

c.3635T>C

1 paper

NM_000492.4

p.V1212V

c.3636C>T

1 paper

NM_000492.4

p.K1213delFs

c.3637delA

1 paper

NM_000492.4

p.K1213fs

c.3637_3638fs

1 paper

NM_000492.4

p.K1213Q

c.3637A>C

2 papers

NM_000492.4

p.T1211A

c.3631A>G

4 papers

NM_000492.4

p.M1210I

c.3630G>A

4 papers

NM_000492.4

p.M1210I

c.3630G>C