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

8 papers

NM_000492.4

p.Q353H

c.1059A>C

Surrounding Variants

1 paper

NM_000492.4

p.Q353Q

c.1059A>G

8 papers

NM_000492.4

p.Q353H

c.1059A>T

3 papers

NM_000492.4

p.Q353R

c.1058A>G

1 paper

NM_000492.4

p.Q353_A357delFs

c.1059_1069del11

1 paper

NM_000492.4

p.F354I

c.1060T>A

2 papers

NM_000492.4

p.F354L

c.1060T>C

1 paper

NM_000492.4

p.Q353K

c.1057C>A

11 papers

NM_000492.4

p.Q353*

c.1057C>T

2 papers

NM_000492.4

p.F354C

c.1061T>G

2 papers

NM_000492.4

p.F354L

c.1062T>A

2 papers

NM_000492.4

p.F354F

c.1062T>C

2 papers

NM_000492.4

p.F354L

c.1062T>G