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.K1174T

c.3521A>C

Surrounding Variants

1 paper

NM_000492.4

p.K1174R

c.3521A>G

1 paper

NM_000492.4

p.K1174*

c.3520A>T

2 papers

NM_000492.4

p.P1175_T1179delFs

c.3525_3537del13

3 papers

NM_000492.4

p.P1175delFs

c.3524delC

1 paper

NM_000492.4

p.P1175T

c.3523C>A

1 paper

NM_000492.4

p.P1175fs

c.3523_3524fs

1 paper

NM_000492.4

p.G1173G

c.3519T>G

1 paper

NM_000492.4

p.K1174del1

c.3520_3522delAAA

2 papers

NM_000492.4

p.G1173D

c.3518G>A

7 papers

NM_000492.4

p.G1173S

c.3517G>A

1 paper

NM_000492.4

p.T1176fs

c.3526_3527fs

1 paper

NM_000492.4

p.E1172D

c.3516A>C