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

124 papers

NM_000492.4

p.G1069R

c.3205G>C

Surrounding Variants

127 papers

NM_000492.4

p.G1069R

c.3205G>A

1 paper

NM_000492.4

p.F1068L

c.3204C>A

1 paper

NM_000492.4

p.F1068L

c.3204C>G

3 papers

NM_000492.4

p.F1068F

c.3204C>T

1 paper

NM_000492.4

p.G1069A

c.3206G>C

1 paper

NM_000492.4

p.G1069V

c.3206G>T

1 paper

NM_000492.4

p.F1068Y

c.3203T>A

2 papers

NM_000492.4

p.F1068C

c.3203T>G

1 paper

NM_000492.4

p.R1070G

c.3208C>G

200 papers

NM_000492.4

p.R1070W

c.3208C>T

1 paper

NM_000492.4

p.F1068L

c.3202T>C

173 papers

NM_000492.4

p.R1070Q

c.3209G>A