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.K612I

c.1835A>T

Surrounding Variants

1 paper

NM_000492.4

p.K612R

c.1835A>G

1 paper

NM_000492.4

p.K612N

c.1836A>C

1 paper

NM_000492.4

p.K612N

c.1836A>T

31 papers

NM_000492.4

p.A613T

c.1837G>A

1 paper

NM_000492.4

p.K611R

c.1832A>G

2 papers

NM_000492.4

p.A613A

c.1839T>A

4 papers

NM_000492.4

p.L610F

c.1830A>C

5 papers

NM_000492.4

p.L610F

c.1830A>T

2 papers

NM_000492.4

p.D614N

c.1840G>A

1 paper

NM_000492.4

p.D614Y

c.1840G>T

76 papers

NM_000492.4

p.D614G

c.1841A>G

13 papers

NM_000492.4

p.L610S

c.1829T>C