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

3 papers

NM_000492.4

p.Q372_D373Splc

c.1116+2T>A

Surrounding Variants

3 papers

NM_000492.4

p.Q372_D373Splc

c.1116+2T>C

40 papers

NM_000492.4

p.Q372_D373Splc

c.1116+1G>A

3 papers

NM_000492.4

p.Q372_D373Splc

c.1116+1G>C

3 papers

NM_000492.4

p.Q372_D373Splc

c.1116+1G>T

1 paper

NM_000492.4

p.Q372_D373Splc

c.1116+4A>G

3 papers

NM_000492.4

p.Q372H

c.1116G>C

3 papers

NM_000492.4

p.Q372H

c.1116G>T

5 papers

NM_000492.4

p.Q372R

c.1115A>G

3 papers

NM_000492.4

p.Q372L

c.1115A>T

1 paper

NM_000492.4

p.Q372_D373Splc

c.1116+5T>G

6 papers

NM_000492.4

p.Q372*

c.1114C>T

2 papers

NM_000492.4

p.Q372delFs

c.1115delA