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

350 papers

NM_000492.4

p.G1349D

c.4046G>A

Surrounding Variants

2 papers

NM_000492.4

p.G1349A

c.4046G>C

8 papers

NM_000492.4

p.H1350insFs

c.4048_4049insCC

1 paper

NM_000492.4

p.G1349G

c.4047C>A

11 papers

NM_000492.4

p.G1349S

c.4045G>A

1 paper

NM_000492.4

p.H1350Y

c.4048C>T

4 papers

NM_000492.4

p.G1349delFs

c.4046delG

5 papers

NM_000492.4

p.H1350Q

c.4050C>A

5 papers

NM_000492.4

p.H1350Q

c.4050C>G

2 papers

NM_000492.4

p.H1350H

c.4050C>T

5 papers

NM_000492.4

p.K1351E

c.4051A>G

5 papers

NM_000492.4

p.K1351*

c.4051A>T

1 paper

NM_000492.4

p.S1347R

c.4041C>A