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

10 papers

NM_000492.4

p.G1127_R1128insA

c.3379_3383ins3

Surrounding Variants

5 papers

NM_000492.4

p.G1127E

c.3380G>A

1 paper

NM_000492.4

p.E1126A

c.3377A>C

4 papers

NM_000492.4

p.R1128G

c.3382A>G

7 papers

NM_000492.4

p.R1128*

c.3382A>T

2 papers

NM_000492.4

p.R1128_G1130delFs

c.3384_3388del5

2 papers

NM_000492.4

p.E1126K

c.3376G>A

1 paper

NM_000492.4

p.G1125G

c.3375A>G

3 papers

NM_000492.4

p.E1126_G1127delFs

c.3376_3379del4

2 papers

NM_000492.4

p.G1125R

c.3373G>C

2 papers

NM_000492.4

p.V1129delFs

c.3387delT

2 papers

NM_000492.4

p.V1129A

c.3386T>C

1 paper

NM_000492.4

p.E1124A

c.3371A>C