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.T1095T

c.3285A>T

Surrounding Variants

5 papers

NM_000492.4

p.L1096R

c.3287T>G

11 papers

NM_000492.4

p.R1097C

c.3289C>T

2 papers

NM_000492.4

p.R1097_R1102delFs

c.3290_3305del16

2 papers

NM_000492.4

p.R1097H

c.3290G>A

2 papers

NM_000492.4

p.R1097P

c.3290G>C

1 paper

NM_000492.4

p.R1097L

c.3290G>T

26 papers

NM_000492.4

p.W1098R

c.3292T>A

26 papers

NM_000492.4

p.W1098R

c.3292T>C

12 papers

NM_000492.4

p.L1093P

c.3278T>C

2 papers

NM_000492.4

p.W1098delFs

c.3294delG

2 papers

NM_000492.4

p.L1093M

c.3277C>A

1 paper

NM_000492.4

p.L1093L

c.3277C>T