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

5 papers

NM_000492.4

p.E479A

c.1436A>C

Surrounding Variants

2 papers

NM_000492.4

p.G480delFs

c.1439delG

4 papers

NM_000492.4

p.E479D

c.1437G>C

1 paper

NM_000492.4

p.E479Q

c.1435G>C

4 papers

NM_000492.4

p.E479*

c.1435G>T

4 papers

NM_000492.4

p.E479D

c.1437G>T

16 papers

NM_000492.4

p.G480S

c.1438G>A

78 papers

NM_000492.4

p.G480C

c.1438G>T

1 paper

NM_000492.4

p.G480_K481del1

c.1439_1441delGTA

3 papers

NM_000492.4

p.S478*

c.1433C>A

3 papers

NM_000492.4

p.S478*

c.1433C>G

2 papers

NM_000492.4

p.S478L

c.1433C>T

2 papers

NM_000492.4

p.S478delFs

c.1434delA