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.Q525L

c.1574A>T

Surrounding Variants

24 papers

NM_000492.4

p.Q525*

c.1573C>T

61 papers

NM_000492.4

p.C524*

c.1572C>A

3 papers

NM_000492.4

p.L526insFs

c.1576_1577insT

1 paper

NM_000492.4

p.L526L

c.1576C>T

3 papers

NM_000492.4

p.C524Y

c.1571G>A

7 papers

NM_000492.4

p.C524S

c.1571G>C

2 papers

NM_000492.4

p.Q525delFs

c.1573delC

2 papers

NM_000492.4

p.L526P

c.1577T>C

1 paper

NM_000492.4

p.L526L

c.1578A>G

7 papers

NM_000492.4

p.C524S

c.1570T>A

2 papers

NM_000492.4

p.C524R

c.1570T>C

4 papers

NM_000492.4

p.C524delFs

c.1571delG