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

114 papers

NM_000492.4

p.Q996_L997Splc

c.2988+1G>A

Surrounding Variants

2 papers

NM_000492.4

p.Q996_L997Splc

c.2988+1G>C

3 papers

NM_000492.4

p.Q996_L997Splc

c.2988+1G>T

34 papers

NM_000492.4

p.Q996Q

c.2988G>A

1 paper

NM_000492.4

p.Q996H

c.2988G>C

4 papers

NM_000492.4

p.Q996_L997Splc

c.2988+2T>C

1 paper

NM_000492.4

p.Q996R

c.2987A>G

1 paper

NM_000492.4

p.Q996_L997Splc

c.2988+3A>G

3 papers

NM_000492.4

p.Q996*

c.2986C>T

1 paper

NM_000492.4

p.Q996_L997Splc

c.2988+5G>A

1 paper

NM_000492.4

p.I995N

c.2984T>A

1 paper

NM_000492.4

p.I995L

c.2983A>C

1 paper

NM_000492.4

p.Q996_L997Splc

c.2988+7A>G