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

1 paper

NM_000492.4

p.Y1219H

c.3655T>C

Surrounding Variants

2 papers

NM_000492.4

p.Y1219C

c.3656A>G

4 papers

NM_000492.4

p.Y1219F

c.3656A>T

2 papers

NM_000492.4

p.K1218R

c.3653A>G

6 papers

NM_000492.4

p.Y1219*

c.3657C>A

4 papers

NM_000492.4

p.Y1219_T1220insFs

c.3657_3658insA

6 papers

NM_000492.4

p.Y1219*

c.3657C>G

3 papers

NM_000492.4

p.T1220fs

c.3658_3659fs

1 paper

NM_000492.4

p.K1218*

c.3652A>T

337 papers

NM_000492.4

p.T1220delFs

c.3659delC

6 papers

NM_000492.4

p.T1220fs

c.3658_3659fs

6 papers

NM_000492.4

p.A1217_K1218insFs

c.3651_3652ins4

27 papers

NM_000492.4

p.T1220I

c.3659C>T