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

11 papers

NM_000492.4

p.H1375N

c.4123C>A

Surrounding Variants

1 paper

NM_000492.4

p.H1375Y

c.4123C>T

16 papers

NM_000492.4

p.H1375P

c.4124A>C

1 paper

NM_000492.4

p.H1375R

c.4124A>G

2 papers

NM_000492.4

p.H1375L

c.4124A>T

1 paper

NM_000492.4

p.L1376delFs

c.4127delT

2 papers

NM_000492.4

p.A1374D

c.4121C>A

2 papers

NM_000492.4

p.H1375Q

c.4125T>A

2 papers

NM_000492.4

p.H1375Q

c.4125T>G

6 papers

NM_000492.4

p.L1376_D1377delFs

c.4127_4131del5

2 papers

NM_000492.4

p.L1376V

c.4126T>G

1 paper

NM_000492.4

p.L1376fs

c.4126_4127fs

1 paper

NM_000492.4

p.S1373T

c.4118G>C