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.I1203insFs

c.3608_3609insG

Surrounding Variants

14 papers

NM_000492.4

p.I1203V

c.3607A>G

1 paper

NM_000492.4

p.P1205_Q1209delFs

c.3615_3625del11

54 papers

NM_000492.4

p.W1204*

c.3611G>A

54 papers

NM_000492.4

p.W1204*

c.3612G>A

2 papers

NM_000492.4

p.D1202fs

c.3604_3605fs

6 papers

NM_000492.4

p.D1202delFs

c.3605delA

1 paper

NM_000492.4

p.D1202fs

c.3604_3605fs

2 papers

NM_000492.4

p.P1205delFs

c.3615delC

3 papers

NM_000492.4

p.P1205S

c.3613C>T

1 paper

NM_000492.4

p.D1201N

c.3601G>A

1 paper

NM_000492.4

p.D1201fs

c.3601_3602fs

2 papers

NM_000492.4

p.K1200Fs

c.3599_3600delinsGFs