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

7 papers

NM_000492.4

p.K1177R

c.3530A>G

Surrounding Variants

1 paper

NM_000492.4

p.K1177T

c.3530A>C

6 papers

NM_000492.4

p.K1177fs

c.3529_3530fs

13 papers

NM_000492.4

p.K1177*

c.3529A>T

13 papers

NM_000492.4

p.K1177fs

c.3529_3530fs

3 papers

NM_000492.4

p.K1177N

c.3531G>C

14 papers

NM_000492.4

p.S1178_T1179insFs

c.3532_3535dup4

2 papers

NM_000492.4

p.K1177N

c.3531G>T

3 papers

NM_000492.4

p.K1177delFs

c.3530delA

3 papers

NM_000492.4

p.T1179_K1180delFs

c.3536_3539del4

3 papers

NM_000492.4

p.S1178*

c.3533C>A

3 papers

NM_000492.4

p.S1178*

c.3533C>G

1 paper

NM_000492.4

p.S1178L

c.3533C>T