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.P303S

c.907C>T

Surrounding Variants

1 paper

NM_001321103.2

p.A304T

c.910G>A

1 paper

NM_001321103.2

p.T314I

c.941C>T

1 paper

NM_001321103.2

p.S288Y

c.863C>A

2 papers

NM_001321103.2

p.S322G

c.964A>G

1 paper

NM_001321103.2

p.S324C

c.970A>T

1 paper

NM_001321103.2

p.R331*

c.991A>T

1 paper

NM_001321103.2

p.R271Q

c.812G>A

1 paper

NM_003615.5

p.E326K

c.976G>A

1 paper

NM_001321103.2

p.R271*

c.811C>T

1 paper

NM_001321103.2

p.L344P

c.1031T>C

1 paper

NM_001321103.2

p.E261D

c.783A>T

1 paper

NM_001321103.2

p.E261D

c.783A>C