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

2 papers

NM_000492.4

p.K166insFs

c.497_498insA

Surrounding Variants

4 papers

NM_000492.4

p.L165*

c.494T>A

37 papers

NM_000492.4

p.L165S

c.494T>C

4 papers

NM_000492.4

p.L165*

c.494T>G

3 papers

NM_000492.4

p.L165F

c.495A>C

3 papers

NM_000492.4

p.L165F

c.495A>T

1 paper

NM_000492.4

p.L165L

c.493T>C

3 papers

NM_000492.4

p.K166Q

c.496A>C

13 papers

NM_000492.4

p.K166E

c.496A>G

1 paper

NM_000492.4

p.T164T

c.492T>A

1 paper

NM_000492.4

p.L165_L167del3

c.493_500del9

3 papers

NM_000492.4

p.K166delFs

c.498delG

3 papers

NM_000492.4

p.T164N

c.491C>A