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.R1097L

c.3290G>T

Surrounding Variants

2 papers

NM_000492.4

p.R1097H

c.3290G>A

2 papers

NM_000492.4

p.R1097P

c.3290G>C

11 papers

NM_000492.4

p.R1097C

c.3289C>T

2 papers

NM_000492.4

p.R1097_R1102delFs

c.3290_3305del16

26 papers

NM_000492.4

p.W1098R

c.3292T>A

26 papers

NM_000492.4

p.W1098R

c.3292T>C

2 papers

NM_000492.4

p.W1098delFs

c.3294delG

15 papers

NM_000492.4

p.W1098*

c.3293G>A

5 papers

NM_000492.4

p.W1098L

c.3293G>T

5 papers

NM_000492.4

p.L1096R

c.3287T>G

15 papers

NM_000492.4

p.W1098*

c.3294G>A

33 papers

NM_000492.4

p.W1098C

c.3294G>C