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

51 papers

NM_000492.4

p.L1335P

c.4004T>C

Surrounding Variants

10 papers

NM_000492.4

p.L1335F

c.4003C>T

2 papers

NM_000492.4

p.K1334K

c.4002G>A

1 paper

NM_000492.4

p.D1336N

c.4006G>A

3 papers

NM_000492.4

p.K1334R

c.4001A>G

1 paper

NM_000492.4

p.F1337L

c.4009T>C

11 papers

NM_000492.4

p.F1337V

c.4009T>G

2 papers

NM_000492.4

p.G1333_K1334ins4

c.3997_4001ins12

1 paper

NM_000492.4

p.G1333W

c.3997G>T

1 paper

NM_000492.4

p.F1337L

c.4011T>A

1 paper

NM_000492.4

p.F1337L

c.4011T>G

1 paper

NM_000492.4

p.V1338I

c.4012G>A

1 paper

NM_000492.4

p.V1338insFs

c.4013_4014insT