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

3 papers

NM_000492.4

p.K163delFs

c.487delA

Surrounding Variants

5 papers

NM_000492.4

p.K163E

c.487A>G

5 papers

NM_000492.4

p.K163T

c.488A>C

1 paper

NM_000492.4

p.K162Q

c.484A>C

14 papers

NM_000492.4

p.K162E

c.484A>G

1 paper

NM_000492.4

p.K163R

c.488A>G

5 papers

NM_000492.4

p.K163M

c.488A>T

1 paper

NM_000492.4

p.K162*

c.484A>T

4 papers

NM_000492.4

p.K163K

c.489G>A

8 papers

NM_000492.4

p.Y161S

c.482A>C

11 papers

NM_000492.4

p.Y161C

c.482A>G

3 papers

NM_000492.4

p.K163_T164Splc

c.489+1G>A

135 papers

NM_000492.4

p.K163_T164Splc

c.489+1G>T