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

31 papers

NM_000492.4

p.K684fs

c.2050_2051fs

Surrounding Variants

13 papers

NM_000492.4

p.K684fs

c.2050_2051fs

1 paper

NM_000492.4

p.K684*

c.2050A>T

3 papers

NM_000492.4

p.K684delins

c.2051_2052delinsGA

93 papers

NM_000492.4

p.K684Fs

c.2051_2052delinsGFs

2 papers

NM_000492.4

p.K684_Q685delFs

c.2052_2055del4

5 papers

NM_000492.4

p.Q685insFs

c.2053_2054insC

1 paper

NM_000492.4

p.K684_Q685insFs

c.2052_2053insG

4 papers

NM_000492.4

p.K684N

c.2052A>C

2 papers

NM_000492.4

p.K683R

c.2048A>G

2 papers

NM_000492.4

p.K684K

c.2052A>G

4 papers

NM_000492.4

p.K684N

c.2052A>T

3 papers

NM_000492.4

p.Q685delFs

c.2053delC