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

5 papers

NM_000492.4

p.H620L

c.1859A>T

Surrounding Variants

10 papers

NM_000492.4

p.H620P

c.1859A>C

2 papers

NM_000492.4

p.H620R

c.1859A>G

2 papers

NM_000492.4

p.H620D

c.1858C>G

7 papers

NM_000492.4

p.H620Y

c.1858C>T

18 papers

NM_000492.4

p.H620Q

c.1860T>A

18 papers

NM_000492.4

p.H620Q

c.1860T>G

2 papers

NM_000492.4

p.L619F

c.1857G>C

2 papers

NM_000492.4

p.L619F

c.1857G>T

1 paper

NM_000492.4

p.E621G

c.1862A>G

1 paper

NM_000492.4

p.L619*

c.1856T>A

16 papers

NM_000492.4

p.L619S

c.1856T>C

1 paper

NM_000492.4

p.L619delFs

c.1856_1857delTG