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

2 papers

NM_000492.4

p.I1002F

c.3004A>T

Surrounding Variants

1 paper

NM_000492.4

p.I1002T

c.3005T>C

25 papers

NM_000492.4

p.G1003delFs

c.3007delG

1 paper

NM_000492.4

p.V1001L

c.3001G>C

2 papers

NM_000492.4

p.V1001fs

c.3001_3002fs

4 papers

NM_000492.4

p.G1003*

c.3007G>T

1 paper

NM_000492.4

p.V1001L

c.3001G>T

2 papers

NM_000492.4

p.V1001fs

c.3001_3002fs

3 papers

NM_000492.4

p.G1003E

c.3008G>A

6 papers

NM_000492.4

p.A1004_V1007del0

c.3011_3019del9

2 papers

NM_000492.4

p.I1000M

c.3000T>G

7 papers

NM_000492.4

p.V1001delFs

c.3002_3003delTG

3 papers

NM_000492.4

p.I1000fs

c.2998_2999fs