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

14 papers

NM_000492.4

p.R1070P

c.3209G>C

Surrounding Variants

173 papers

NM_000492.4

p.R1070Q

c.3209G>A

1 paper

NM_000492.4

p.R1070insFs

c.3209_3210insA

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.R1070R

c.3210G>A

1 paper

NM_000492.4

p.Q1071_P1072del0

c.3211_3216del6

1 paper

NM_000492.4

p.Q1071insFs

c.3211_3212insGT

2 papers

NM_000492.4

p.Q1071*

c.3211C>T

1 paper

NM_000492.4

p.Q1071insFs

c.3212_3213insGT

12 papers

NM_000492.4

p.Q1071P

c.3212A>C

1 paper

NM_000492.4

p.Q1071delFs

c.3213delG

1 paper

NM_000492.4

p.G1069A

c.3206G>C