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.K377R

c.1130A>G

Surrounding Variants

1 paper

NM_000492.4

p.Q378K

c.1132C>A

18 papers

NM_000492.4

p.Q378*

c.1132C>T

3 papers

NM_000492.4

p.Q378fs

c.1132_1133fs

6 papers

NM_000492.4

p.Q378R

c.1133A>G

2 papers

NM_000492.4

p.Q376K

c.1126C>A

16 papers

NM_000492.4

p.K377insFs

c.1130dupA

1 paper

NM_000492.4

p.Q376_K377insFs

c.1128_1129insAA

4 papers

NM_000492.4

p.Q376*

c.1126C>T

3 papers

NM_000492.4

p.Q376delFs

c.1128delA

23 papers

NM_000492.4

p.L375F

c.1125A>C

23 papers

NM_000492.4

p.L375F

c.1125A>T

6 papers

NM_000492.4

p.E379K

c.1135G>A