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.R31R

c.93C>A

Surrounding Variants

1 paper

NM_000492.4

p.R31_L32insFs

c.93_94insA

6 papers

NM_000492.4

p.L32M

c.94C>A

2 papers

NM_000492.4

p.L32L

c.94C>T

17 papers

NM_000492.4

p.R31H

c.92G>A

3 papers

NM_000492.4

p.R31P

c.92G>C

35 papers

NM_000492.4

p.R31L

c.92G>T

2 papers

NM_000492.4

p.R31S

c.91C>A

1 paper

NM_000492.4

p.R31G

c.91C>G

111 papers

NM_000492.4

p.R31C

c.91C>T

1 paper

NM_000492.4

p.R31delFs

c.92delG

1 paper

NM_000492.4

p.R31_E33delFs

c.92_98del7

18 papers

NM_000492.4

p.L32P

c.95T>C