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.N423S

c.1268A>G

Surrounding Variants

1 paper

NM_000492.4

p.N423I

c.1268A>T

2 papers

NM_000492.4

p.N423D

c.1267A>G

2 papers

NM_000492.4

p.N423K

c.1269T>A

2 papers

NM_000492.4

p.N423K

c.1269T>G

19 papers

NM_000492.4

p.G424S

c.1270G>A

3 papers

NM_000492.4

p.G424R

c.1270G>C

26 papers

NM_000492.4

p.S422F

c.1265C>T

1 paper

NM_000492.4

p.S422_N423del1

c.1266_1268delTAA

3 papers

NM_000492.4

p.G424D

c.1271G>A

8 papers

NM_000492.4

p.S422P

c.1264T>C

11 papers

NM_000492.4

p.S422A

c.1264T>G

1 paper

NM_000492.4

p.T421T

c.1263T>A