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

29 papers

NM_000492.4

p.V520I

c.1558G>A

Surrounding Variants

214 papers

NM_000492.4

p.V520F

c.1558G>T

2 papers

NM_000492.4

p.S519R

c.1557C>A

2 papers

NM_000492.4

p.S519R

c.1557C>G

2 papers

NM_000492.4

p.V520D

c.1559T>A

3 papers

NM_000492.4

p.S519N

c.1556G>A

1 paper

NM_000492.4

p.S519I

c.1556G>T

3 papers

NM_000492.4

p.I521L

c.1561A>C

2 papers

NM_000492.4

p.S519R

c.1555A>C

15 papers

NM_000492.4

p.S519G

c.1555A>G

10 papers

NM_000492.4

p.I521F

c.1561A>T

1 paper

NM_000492.4

p.R518S

c.1554A>C

1 paper

NM_000492.4

p.R518S

c.1554A>T