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.Q1291_K1292Splc

c.3874-4A>G

Surrounding Variants

3 papers

NM_000492.4

p.Q1291_K1292Splc

c.3874-2A>G

3 papers

NM_000492.4

p.Q1291_K1292Splc

c.3874-1G>A

78 papers

NM_000492.4

p.K1292delFs

c.3876delA

1 paper

NM_000492.4

p.K1292E

c.3874A>G

1 paper

NM_000492.4

p.K1292R

c.3875A>G

19 papers

NM_000492.4

p.V1293I

c.3877G>A

2 papers

NM_000492.4

p.V1293L

c.3877G>C

1 paper

NM_000492.4

p.V1293fs

c.3877_3878fs

2 papers

NM_000492.4

p.V1293L

c.3877G>T

17 papers

NM_000492.4

p.I1295_F1296delFs

c.3883_3886del4

2 papers

NM_000492.4

p.V1293A

c.3878T>C

7 papers

NM_000492.4

p.V1293G

c.3878T>G