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

3 papers

NM_000492.4

p.M1105R

c.3314T>G

Surrounding Variants

3 papers

NM_000492.4

p.M1105delFs

c.3315delG

2 papers

NM_000492.4

p.M1105I

c.3315G>A

2 papers

NM_000492.4

p.M1105I

c.3315G>C

2 papers

NM_000492.4

p.M1105I

c.3315G>T

3 papers

NM_000492.4

p.F1107insFs

c.3321dupT

2 papers

NM_000492.4

p.F1107delFs

c.3321delT

1 paper

NM_000492.4

p.E1104G

c.3311A>G

3 papers

NM_000492.4

p.E1104V

c.3311A>T

3 papers

NM_000492.4

p.I1106T

c.3317T>C

5 papers

NM_000492.4

p.E1104K

c.3310G>A

1 paper

NM_000492.4

p.E1104Q

c.3310G>C

63 papers

NM_000492.4

p.E1104*

c.3310G>T