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

1 paper

NM_000492.4

p.K1080*

c.3238A>T

Surrounding Variants

6 papers

NM_000492.4

p.K1080Q

c.3238A>C

4 papers

NM_000492.4

p.K1080R

c.3239A>G

1 paper

NM_000492.4

p.K1080I

c.3239A>T

1 paper

NM_000492.4

p.H1079H

c.3237C>T

4 papers

NM_000492.4

p.K1080delFs

c.3238delA

5 papers

NM_000492.4

p.H1079P

c.3236A>C

1 paper

NM_000492.4

p.H1079Y

c.3235C>T

1 paper

NM_000492.4

p.A1081T

c.3241G>A

4 papers

NM_000492.4

p.A1081P

c.3241G>C

1 paper

NM_000492.4

p.A1081D

c.3242C>A

2 papers

NM_000492.4

p.A1081G

c.3242C>G

2 papers

NM_000492.4

p.A1081V

c.3242C>T