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.M1157L

c.3469A>C

Surrounding Variants

2 papers

NM_000492.4

p.M1157_R1158insTA

c.3469_3473ins6

2 papers

NM_000492.4

p.M1157L

c.3469A>T

2 papers

NM_000492.4

p.L1156_M1157Splc

c.3469-1G>A

2 papers

NM_000492.4

p.L1156_M1157Splc

c.3469-1G>C

2 papers

NM_000492.4

p.L1156_M1157Splc

c.3469-1G>T

2 papers

NM_000492.4

p.L1156_M1157Splc

c.3469-2A>C

8 papers

NM_000492.4

p.L1156_M1157Splc

c.3469-2A>G

2 papers

NM_000492.4

p.L1156_M1157Splc

c.3469-2A>T

1 paper

NM_000492.4

p.M1157I

c.3471G>A

1 paper

NM_000492.4

p.M1157I

c.3471G>C

1 paper

NM_000492.4

p.M1157I

c.3471G>T

6 papers

NM_000492.4

p.L1156_M1157Splc

c.3469-3C>A