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.I482N

c.1445T>A

Surrounding Variants

2 papers

NM_000492.4

p.I482insFs

c.1446dupT

2 papers

NM_000492.4

p.I482V

c.1444A>G

1 paper

NM_000492.4

p.I482I

c.1446T>A

2 papers

NM_000492.4

p.K483*

c.1447A>T

3 papers

NM_000492.4

p.K481E

c.1441A>G

11 papers

NM_000492.4

p.H484Y

c.1450C>T

1 paper

NM_000492.4

p.G480G

c.1440T>C

9 papers

NM_000492.4

p.H484R

c.1451A>G

7 papers

NM_000492.4

p.G480D

c.1439G>A

2 papers

NM_000492.4

p.G480V

c.1439G>T

1 paper

NM_000492.4

p.H484Q

c.1452C>G

16 papers

NM_000492.4

p.G480S

c.1438G>A