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.S1197Splc

c.3591-5T>G

Surrounding Variants

1 paper

NM_001321103.2

p.S1197Splc

c.3591-3C>T

1 paper

NM_001321103.2

p.V1253L

c.3757G>T

1 paper

NM_001321103.2

p.V1253L

c.3757G>C

1 paper

NM_003615.5

p.A1184A

c.3552C>A

1 paper

NM_001321103.2

p.K1159N

c.3477G>C

1 paper

NM_001321103.2

p.K1158N

c.3474A>T

1 paper

NM_001321103.2

p.V1125L

c.3373G>T

1 paper

NM_001321103.2

p.V1125L

c.3373G>C