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

2 papers

NM_000492.4

p.T1076P

c.3226A>C

Surrounding Variants

2 papers

NM_000492.4

p.T1076delFs

c.3227delC

4 papers

NM_000492.4

p.L1077delFs

c.3229_3230delCT

2 papers

NM_000492.4

p.T1076_L1077delFs

c.3227_3231del5

1 paper

NM_000492.4

p.T1076delFs

c.3226_3227delAC

1 paper

NM_000492.4

p.L1077_F1078delFs

c.3229_3233del5

1 paper

NM_000492.4

p.E1075A

c.3224A>C

5 papers

NM_000492.4

p.L1077_F1078delFs

c.3231_3232delGT

1 paper

NM_000492.4

p.L1077fs

c.3229_3230fs

1 paper

NM_000492.4

p.E1075K

c.3223G>A

1 paper

NM_000492.4

p.E1075Q

c.3223G>C

1 paper

NM_000492.4

p.E1075_T1076del1

c.3224_3226delAAA

63 papers

NM_000492.4

p.F1074L

c.3222T>A