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.S308A

c.922T>G

Surrounding Variants

2 papers

NM_000492.4

p.S308P

c.922T>C

3 papers

NM_000492.4

p.S308*

c.923C>A

1 paper

NM_000492.4

p.S307R

c.921C>A

3 papers

NM_000492.4

p.S308*

c.923C>G

1 paper

NM_000492.4

p.S307R

c.921C>G

1 paper

NM_000492.4

p.S308L

c.923C>T

1 paper

NM_000492.4

p.S308S

c.924A>C

7 papers

NM_000492.4

p.S307N

c.920G>A

2 papers

NM_000492.4

p.S307I

c.920G>T

1 paper

NM_000492.4

p.S307R

c.919A>C

4 papers

NM_000492.4

p.S307C

c.919A>T

7 papers

NM_000492.4

p.A309T

c.925G>A