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

2 papers

NM_000492.4

p.M1354R

c.4061T>G

Surrounding Variants

2 papers

NM_000492.4

p.M1354T

c.4061T>C

3 papers

NM_000492.4

p.M1354I

c.4062G>A

3 papers

NM_000492.4

p.M1354I

c.4062G>C

3 papers

NM_000492.4

p.M1354I

c.4062G>T

1 paper

NM_000492.4

p.L1353F

c.4059G>C

6 papers

NM_000492.4

p.C1355S

c.4063T>A

1 paper

NM_000492.4

p.C1355G

c.4063T>G

2 papers

NM_000492.4

p.C1355Y

c.4064G>A

6 papers

NM_000492.4

p.C1355S

c.4064G>C

2 papers

NM_000492.4

p.C1355F

c.4064G>T

3 papers

NM_000492.4

p.C1355_L1356delFs

c.4065_4066delCT

2 papers

NM_000492.4

p.L1353*

c.4058T>A