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.S623I

c.1868G>T

Surrounding Variants

1 paper

NM_000492.4

p.S624_F626del0

c.1870_1878del9

6 papers

NM_000492.4

p.S624R

c.1870A>C

2 papers

NM_000492.4

p.S624C

c.1870A>T

2 papers

NM_000492.4

p.S624_F626delFs

c.1871_1878del8

85 papers

NM_000492.4

p.G622D

c.1865G>A

3 papers

NM_000492.4

p.G622V

c.1865G>T

6 papers

NM_000492.4

p.S624R

c.1872C>A

6 papers

NM_000492.4

p.S624R

c.1872C>G

3 papers

NM_000492.4

p.Y625delFs

c.1874_1875delAT

3 papers

NM_000492.4

p.Y625N

c.1873T>A

1 paper

NM_000492.4

p.Y625fs

c.1873_1874fs

8 papers

NM_000492.4

p.Y625insFs

c.1874_1875insT