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.L1059_G1069del11

c.3175_3206del33

Surrounding Variants

3 papers

NM_000492.4

p.S1058N

c.3173G>A

1 paper

NM_000492.4

p.S1058C

c.3172A>T

7 papers

NM_000492.4

p.L1059*

c.3176T>A

7 papers

NM_000492.4

p.L1059*

c.3176T>G

4 papers

NM_000492.4

p.K1060delFs

c.3180delA

16 papers

NM_000492.4

p.T1057_S1058insFs

c.3171_3172insC

2 papers

NM_000492.4

p.L1059L

c.3177A>G

2 papers

NM_000492.4

p.K1060E

c.3178A>G

5 papers

NM_000492.4

p.T1057R

c.3170C>G

3 papers

NM_000492.4

p.T1057I

c.3170C>T

1 paper

NM_000492.4

p.S1058delFs

c.3172delA

53 papers

NM_000492.4

p.K1060T

c.3179A>C