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.P205P

c.615T>G

Surrounding Variants

3 papers

NM_000492.4

p.P205R

c.614C>G

3 papers

NM_000492.4

p.P205L

c.614C>T

2 papers

NM_000492.4

p.L206delFs

c.617delT

1 paper

NM_000492.4

p.L206V

c.616T>G

4 papers

NM_000492.4

p.P205T

c.613C>A

2 papers

NM_000492.4

p.P205A

c.613C>G

133 papers

NM_000492.4

p.P205S

c.613C>T

1 paper

NM_000492.4

p.L206S

c.617T>C

318 papers

NM_000492.4

p.L206W

c.617T>G

8 papers

NM_000492.4

p.L206F

c.618G>C

8 papers

NM_000492.4

p.L206F

c.618G>T

1 paper

NM_000492.4

p.A204A

c.612T>A