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

2 papers

NM_000492.4

p.E1228K

c.3682G>A

Surrounding Variants

3 papers

NM_000492.4

p.E1228Q

c.3682G>C

1 paper

NM_000492.4

p.E1228fs

c.3682_3683fs

1 paper

NM_000492.4

p.E1228_N1229delFs

c.3683_3686del4

7 papers

NM_000492.4

p.E1228G

c.3683A>G

1 paper

NM_000492.4

p.L1227L

c.3681A>G

2 papers

NM_000492.4

p.L1227*

c.3680T>A

13 papers

NM_000492.4

p.L1227S

c.3680T>C

2 papers

NM_000492.4

p.L1227*

c.3680T>G

5 papers

NM_000492.4

p.N1229K

c.3687C>A

5 papers

NM_000492.4

p.N1229K

c.3687C>G

1 paper

NM_000492.4

p.I1226T

c.3677T>C

2 papers

NM_000492.4

p.I1226R

c.3677T>G