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

2 papers

NM_000492.4

p.L558F

c.1674A>T

Surrounding Variants

2 papers

NM_000492.4

p.L558F

c.1674A>C

2 papers

NM_000492.4

p.A559delFs

c.1675delG

155 papers

NM_000492.4

p.A559T

c.1675G>A

4 papers

NM_000492.4

p.A559P

c.1675G>C

3 papers

NM_000492.4

p.A559S

c.1675G>T

76 papers

NM_000492.4

p.L558S

c.1673T>C

2 papers

NM_000492.4

p.L558delFs

c.1674delA

9 papers

NM_000492.4

p.A559E

c.1676C>A

9 papers

NM_000492.4

p.A559V

c.1676C>T

2 papers

NM_000492.4

p.A559delFs

c.1677delA

2 papers

NM_000492.4

p.S557_L558insFs

c.1671_1672ins5

8 papers

NM_000492.4

p.R560G

c.1678A>G