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.E1417fs

c.4249_4250fs

Surrounding Variants

1 paper

NM_000492.4

p.E1417K

c.4249G>A

1 paper

NM_000492.4

p.E1417Q

c.4249G>C

2 papers

NM_000492.4

p.E1417*

c.4249G>T

32 papers

NM_000492.4

p.E1417delFs

c.4251delA

1 paper

NM_000492.4

p.E1417A

c.4250A>C

1 paper

NM_000492.4

p.I1416M

c.4248A>G

2 papers

NM_000492.4

p.E1417D

c.4251A>C

2 papers

NM_000492.4

p.E1417D

c.4251A>T

1 paper

NM_000492.4

p.E1418delFs

c.4252delG

1 paper

NM_000492.4

p.E1418fs

c.4252_4253fs

9 papers

NM_000492.4

p.E1418*

c.4252G>T

9 papers

NM_000492.4

p.E1418fs

c.4252_4253fs