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

197 papers

NM_000492.4

p.S1235R

c.3703A>C

Surrounding Variants

1 paper

NM_000492.4

p.S1235G

c.3703A>G

1 paper

NM_000492.4

p.I1234M

c.3702A>G

2 papers

NM_000492.4

p.S1235N

c.3704G>A

196 papers

NM_000492.4

p.S1235R

c.3705T>A

197 papers

NM_000492.4

p.S1235R

c.3705T>G

3 papers

NM_000492.4

p.I1234L

c.3700A>C

166 papers

NM_000492.4

p.I1234V

c.3700A>G

3 papers

NM_000492.4

p.I1234L

c.3700A>T

1 paper

NM_000492.4

p.I1234_R1239del0

c.3700_3717del18

3 papers

NM_000492.4

p.P1236delFs

c.3708delT

5 papers

NM_000492.4

p.I1234del1

c.3700_3701delATA

5 papers

NM_000492.4

p.G1237S

c.3709G>A