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.L468P

c.1403T>C

Surrounding Variants

1 paper

NM_000492.4

p.M469_I471del3

c.1405_1412del9

1 paper

NM_000492.4

p.L468V

c.1402C>G

1 paper

NM_000492.4

p.M469fs

c.1405_1406fs

2 papers

NM_000492.4

p.M469L

c.1405A>C

28 papers

NM_000492.4

p.M469V

c.1405A>G

2 papers

NM_000492.4

p.M469L

c.1405A>T

50 papers

NM_000492.4

p.L467P

c.1400T>C

2 papers

NM_000492.4

p.M469delFs

c.1407delG

3 papers

NM_000492.4

p.V470_G473delFs

c.1409_1418del10

2 papers

NM_000492.4

p.V470_K483del14

c.1408_1448del42

69 papers

NM_000492.4

p.L467F

c.1399C>T

18 papers

NM_000492.4

p.M469I

c.1407G>A