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.L1093_S1094del2

c.3277_3281del6

Surrounding Variants

244 papers

NM_000492.4

p.Y1092*

c.3276C>A

241 papers

NM_000492.4

p.Y1092*

c.3276C>G

2 papers

NM_000492.4

p.Y1092S

c.3275A>C

5 papers

NM_000492.4

p.Y1092C

c.3275A>G

2 papers

NM_000492.4

p.L1093M

c.3277C>A

1 paper

NM_000492.4

p.L1093L

c.3277C>T

12 papers

NM_000492.4

p.L1093P

c.3278T>C

8 papers

NM_000492.4

p.Y1092H

c.3274T>C

4 papers

NM_000492.4

p.L1091F

c.3273G>C

3 papers

NM_000492.4

p.L1091F

c.3273G>T

4 papers

NM_000492.4

p.L1091L

c.3271T>C

2 papers

NM_000492.4

p.F1090L

c.3270C>A