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.P1013delFs

c.3039delC

Surrounding Variants

4 papers

NM_000492.4

p.P1013insFs

c.3039dupC

1 paper

NM_000492.4

p.Q1012H

c.3036A>C

1 paper

NM_000492.4

p.Q1012H

c.3036A>T

9 papers

NM_000492.4

p.Q1012P

c.3035A>C

9 papers

NM_000492.4

p.P1013H

c.3038C>A

2 papers

NM_000492.4

p.Q1012K

c.3034C>A

1 paper

NM_000492.4

p.Q1012fs

c.3034_3035fs

1 paper

NM_000492.4

p.P1013R

c.3038C>G

40 papers

NM_000492.4

p.P1013L

c.3038C>T

3 papers

NM_000492.4

p.Q1012*

c.3034C>T

3 papers

NM_000492.4

p.Q1012delFs

c.3036delA

2 papers

NM_000492.4

p.Q1012fs

c.3034_3035fs