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.T1142I

c.3425C>T

Surrounding Variants

2 papers

NM_000492.4

p.T1142_L1143insFs

c.3426_3427ins4

6 papers

NM_000492.4

p.T1142A

c.3424A>G

4 papers

NM_000492.4

p.S1141R

c.3423T>A

4 papers

NM_000492.4

p.S1141R

c.3423T>G

3 papers

NM_000492.4

p.S1141N

c.3422G>A

2 papers

NM_000492.4

p.S1141T

c.3422G>C

4 papers

NM_000492.4

p.S1141R

c.3421A>C

11 papers

NM_000492.4

p.S1141C

c.3421A>T

2 papers

NM_000492.4

p.L1143L

c.3429G>A

3 papers

NM_000492.4

p.Q1144*

c.3430C>T

3 papers

NM_000492.4

p.T1142insFs

c.3424_3425ins4

1 paper

NM_000492.4

p.S1141_T1142del2

c.3421_3425del6