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

6 papers

NM_000492.4

p.C592Y

c.1775G>A

Surrounding Variants

2 papers

NM_000492.4

p.C592S

c.1775G>C

5 papers

NM_000492.4

p.C592F

c.1775G>T

2 papers

NM_000492.4

p.C592S

c.1774T>A

1 paper

NM_000492.4

p.C592*

c.1776T>A

1 paper

NM_000492.4

p.C592C

c.1776T>C

2 papers

NM_000492.4

p.K593Q

c.1777A>C

4 papers

NM_000492.4

p.K593*

c.1777A>T

4 papers

NM_000492.4

p.V591A

c.1772T>C

1 paper

NM_000492.4

p.C590*

c.1770T>A

3 papers

NM_000492.4

p.C590Y

c.1769G>A

2 papers

NM_000492.4

p.C590S

c.1769G>C

1 paper

NM_000492.4

p.C590insFs

c.1770dupT