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

3 papers

NM_000492.4

p.T421delFs

c.1262delC

Surrounding Variants

4 papers

NM_000492.4

p.T421A

c.1261A>G

1 paper

NM_000492.4

p.T421insFs

c.1262_1263insA

1 paper

NM_000492.4

p.S422_N423del2

c.1264_1268del6

4 papers

NM_000492.4

p.K420R

c.1259A>G

1 paper

NM_000492.4

p.T421T

c.1263T>A

4 papers

NM_000492.4

p.K420E

c.1258A>G

8 papers

NM_000492.4

p.S422P

c.1264T>C

11 papers

NM_000492.4

p.S422A

c.1264T>G

1 paper

NM_000492.4

p.R419S

c.1257A>C

26 papers

NM_000492.4

p.S422F

c.1265C>T

1 paper

NM_000492.4

p.S422_N423del1

c.1266_1268delTAA

36 papers

NM_000492.4

p.K420insFs

c.1259_1260insA