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.D1370H

c.4108G>C

Surrounding Variants

35 papers

NM_000492.4

p.D1370N

c.4108G>A

3 papers

NM_000492.4

p.D1370G

c.4109A>G

2 papers

NM_000492.4

p.D1370_P1378del9

c.4108_4133del27

3 papers

NM_000492.4

p.D1370E

c.4110T>A

3 papers

NM_000492.4

p.D1370E

c.4110T>G

1 paper

NM_000492.4

p.E1371ins0

c.4111_4113dupGAA

1 paper

NM_000492.4

p.E1371delFs

c.4111delG

1 paper

NM_000492.4

p.L1369F

c.4105C>T

2 papers

NM_000492.4

p.L1369_D1370Fs

c.4105_4110delinsAGAAFs

1 paper

NM_000492.4

p.E1371K

c.4111G>A

92 papers

NM_000492.4

p.E1371Q

c.4111G>C

28 papers

NM_000492.4

p.E1371*

c.4111G>T