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

1 paper

NM_000492.4

p.L188Q

c.563T>A

Surrounding Variants

8 papers

NM_000492.4

p.L188P

c.563T>C

2 papers

NM_000492.4

p.L188M

c.562C>A

1 paper

NM_000492.4

p.N189delFs

c.566delA

10 papers

NM_000492.4

p.N187K

c.561C>A

10 papers

NM_000492.4

p.N187K

c.561C>G

1 paper

NM_000492.4

p.N187N

c.561C>T

4 papers

NM_000492.4

p.N189S

c.566A>G

3 papers

NM_000492.4

p.N187S

c.560A>G

3 papers

NM_000492.4

p.N189I

c.566A>T

2 papers

NM_000492.4

p.N187D

c.559A>G

146 papers

NM_000492.4

p.N187Y

c.559A>T

17 papers

NM_000492.4

p.N189K

c.567C>A