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

15 papers

NM_000492.4

p.G542R

c.1624G>C

Surrounding Variants

15 papers

NM_000492.4

p.G542R

c.1624G>A

2077 papers

NM_000492.4

p.G542*

c.1624G>T

6 papers

NM_000492.4

p.G542E

c.1625G>A

1 paper

NM_000492.4

p.G542A

c.1625G>C

1 paper

NM_000492.4

p.G542V

c.1625G>T

2 papers

NM_000492.4

p.E543delFs

c.1627delG

2 papers

NM_000492.4

p.E543_I546del4

c.1627_1637del12

2 papers

NM_000492.4

p.E543_I556del14

c.1627_1667del42

11 papers

NM_000492.4

p.L541P

c.1622T>C

1 paper

NM_000492.4

p.L541I

c.1621C>A

6 papers

NM_000492.4

p.E543A

c.1628A>C

2 papers

NM_000492.4

p.E543D

c.1629A>C