Varaico: Literature-Extracted Genetic Variants

SLC4A7

93 papers

RefSeq Summary

This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotra...

Pfam Domains

Band_3_cytoaa 110–276UCSCBand 3 cytoplasmic domain

Band_3_cytoaa 347–531UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 580–1139UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 7

HGNC Previous Symbol

SLC4A6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001321103.2

p.I796T

c.2387T>C

Surrounding Variants

1 paper

NM_001321103.2

p.N765_N766delFs

c.2295_2296delTG

1 paper

NM_001321103.2

p.N765S

c.2294A>G

1 paper

NM_001321103.2

p.D754E

c.2262T>G

1 paper

NM_001321103.2

p.D754E

c.2262T>A

1 paper

NM_001321103.2

p.D754N

c.2260G>A

1 paper

NM_001321103.2

p.A748T

c.2242G>A

1 paper

NM_001321103.2

p.I745_E747insFs

c.2233_2240dup8

1 paper

NM_001321103.2

p.C811F

c.2432G>T

1 paper

NM_001321103.2

p.K812T

c.2435A>C

1 paper

NM_001321103.2

p.T844A

c.2530A>G

1 paper

NM_001321103.2

p.P890S

c.2668C>T

2 papers

NM_001321103.2

p.Q669insFs

c.2007dupA