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

7 papers

NM_000492.4

p.T1086A

c.3256A>G

Surrounding Variants

1 paper

NM_000492.4

p.T1086P

c.3256A>C

4 papers

NM_000492.4

p.T1086S

c.3256A>T

3 papers

NM_000492.4

p.T1086S

c.3257C>G

17 papers

NM_000492.4

p.T1086I

c.3257C>T

10 papers

NM_000492.4

p.H1085P

c.3254A>C

60 papers

NM_000492.4

p.H1085R

c.3254A>G

7 papers

NM_000492.4

p.A1087P

c.3259G>C

1 paper

NM_000492.4

p.L1084L

c.3252A>G

2 papers

NM_000492.4

p.N1088insFs

c.3263dupA

5 papers

NM_000492.4

p.N1088D

c.3262A>G

1 paper

NM_000492.4

p.L1084L

c.3250T>C

4 papers

NM_000492.4

p.N1088S

c.3263A>G