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

4 papers

NM_000492.4

p.S1347C

c.4039A>T

Surrounding Variants

1 paper

NM_000492.4

p.S1347R

c.4039A>C

5 papers

NM_000492.4

p.S1347G

c.4039A>G

3 papers

NM_000492.4

p.S1347delFs

c.4040_4041delGC

1 paper

NM_000492.4

p.S1347fs

c.4039_4040fs

1 paper

NM_000492.4

p.S1347N

c.4040G>A

1 paper

NM_000492.4

p.S1347T

c.4040G>C

1 paper

NM_000492.4

p.S1347R

c.4041C>A

20 papers

NM_000492.4

p.S1347R

c.4041C>G

1 paper

NM_000492.4

p.S1347_G1349delins

c.4041_4046delinsTGT

1 paper

NM_000492.4

p.L1346Q

c.4037T>A

1 paper

NM_000492.4

p.L1346insFs

c.4038dupA

1 paper

NM_000492.4

p.L1346V

c.4036C>G