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.F476L

c.1428T>A

Surrounding Variants

1 paper

NM_001321103.2

p.F476L

c.1428T>G

1 paper

NM_001321103.2

p.F476L

c.1426T>C

1 paper

NM_001321103.2

p.T468I

c.1403C>T

1 paper

NM_001321103.2

p.P460L

c.1379C>T

1 paper

NM_001321103.2

p.D508N

c.1522G>A

1 paper

NM_001321103.2

p.D528N

c.1582G>A

1 paper

NM_001321103.2

p.D419N

c.1255G>A

1 paper

NM_001321103.2

p.S401N

c.1202G>A

1 paper

NM_001321103.2

p.P573L

c.1718C>T