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

8 papers

NM_000492.4

p.A457P

c.1369G>C

Surrounding Variants

2 papers

NM_000492.4

p.A457T

c.1369G>A

1 paper

NM_000492.4

p.A457fs

c.1369_1370fs

5 papers

NM_000492.4

p.S459_G461del0

c.1375_1383del9

2 papers

NM_000492.4

p.A457V

c.1370C>T

1 paper

NM_000492.4

p.V456_A457insFs

c.1368_1369insC

61 papers

NM_000492.4

p.V456A

c.1367T>C

6 papers

NM_000492.4

p.G458delFs

c.1373delG

1 paper

NM_000492.4

p.A457_T460del4

c.1369_1379del12

3 papers

NM_000492.4

p.G458R

c.1372G>A

3 papers

NM_000492.4

p.G458R

c.1372G>C

1 paper

NM_000492.4

p.V456L

c.1366G>C

23 papers

NM_000492.4

p.V456F

c.1366G>T