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.G241W

c.721G>T

Surrounding Variants

12 papers

NM_000492.4

p.G241R

c.721G>A

12 papers

NM_000492.4

p.G241R

c.721G>C

2 papers

NM_000492.4

p.G241fs

c.721_722fs

1 paper

NM_000492.4

p.L240L

c.720A>G

1 paper

NM_000492.4

p.G241V

c.722G>T

1 paper

NM_000492.4

p.G241G

c.723G>C

5 papers

NM_000492.4

p.L240R

c.719T>G

7 papers

NM_000492.4

p.L240_Y247delFs

c.720_741del22

1 paper

NM_000492.4

p.L240_R248delFs

c.720_742del23

2 papers

NM_000492.4

p.R242G

c.724A>G

1 paper

NM_000492.4

p.R242*

c.724A>T

1 paper

NM_000492.4

p.R242delFs

c.725delG