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.V1153A

c.3458T>C

Surrounding Variants

23 papers

NM_000492.4

p.V1153E

c.3458T>A

3 papers

NM_000492.4

p.V1153M

c.3457G>A

1 paper

NM_000492.4

p.V1153V

c.3459G>C

2 papers

NM_000492.4

p.V1153_D1154insAT

c.3457_3461ins6

5 papers

NM_000492.4

p.D1154N

c.3460G>A

1 paper

NM_000492.4

p.D1154_S1155insTC

c.3460_3464ins6

2 papers

NM_000492.4

p.D1154Y

c.3460G>T

6 papers

NM_000492.4

p.D1152A

c.3455A>C

10 papers

NM_000492.4

p.D1154G

c.3461A>G

1 paper

NM_000492.4

p.D1154V

c.3461A>T

534 papers

NM_000492.4

p.D1152H

c.3454G>C

2 papers

NM_000492.4

p.D1154E

c.3462T>A