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.F1164insFs

c.3490_3491insT

Surrounding Variants

1 paper

NM_000492.4

p.V1163V

c.3489C>G

7 papers

NM_000492.4

p.K1165*

c.3493A>T

1 paper

NM_000492.4

p.K1165fs

c.3493_3494fs

15 papers

NM_000492.4

p.R1162Q

c.3485G>A

80 papers

NM_000492.4

p.R1162L

c.3485G>T

1 paper

NM_000492.4

p.K1165T

c.3494A>C

2 papers

NM_000492.4

p.K1165R

c.3494A>G

3 papers

NM_000492.4

p.K1165delFs

c.3495delG

1 paper

NM_000492.4

p.R1162G

c.3484C>G

748 papers

NM_000492.4

p.R1162*

c.3484C>T

4 papers

NM_000492.4

p.R1162delFs

c.3485_3486delGA

1 paper

NM_000492.4

p.S1161R

c.3483C>A