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

16 papers

NM_000492.4

p.W202insFs

c.604_605insA

Surrounding Variants

3 papers

NM_000492.4

p.W202R

c.604T>A

7 papers

NM_000492.4

p.W202*

c.605G>A

2 papers

NM_000492.4

p.V201V

c.603G>A

2 papers

NM_000492.4

p.W202S

c.605G>C

5 papers

NM_000492.4

p.W202insFs

c.605_606insT

7 papers

NM_000492.4

p.W202*

c.606G>A

5 papers

NM_000492.4

p.W202C

c.606G>C

5 papers

NM_000492.4

p.W202C

c.606G>T

3 papers

NM_000492.4

p.I203F

c.607A>T

107 papers

NM_000492.4

p.V201M

c.601G>A

1 paper

NM_000492.4

p.V201L

c.601G>C

2 papers

NM_000492.4

p.V201L

c.601G>T