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

1 paper

NM_000492.4

p.L346fs

c.1036_1037fs

Surrounding Variants

2 papers

NM_000492.4

p.L346L

c.1036C>T

37 papers

NM_000492.4

p.L346P

c.1037T>C

1 paper

NM_000492.4

p.V345V

c.1035T>C

3 papers

NM_000492.4

p.L346R

c.1037T>G

4 papers

NM_000492.4

p.L346insFs

c.1037_1038insA

2 papers

NM_000492.4

p.V345A

c.1034T>C

3 papers

NM_000492.4

p.R347S

c.1039C>A

40 papers

NM_000492.4

p.R347C

c.1039C>T

2 papers

NM_000492.4

p.V345L

c.1033G>C

393 papers

NM_000492.4

p.R347H

c.1040G>A

733 papers

NM_000492.4

p.R347P

c.1040G>C

39 papers

NM_000492.4

p.R347L

c.1040G>T