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

2 papers

NM_001321103.2

p.I237I

c.711T>A

Surrounding Variants

2 papers

NM_001321103.2

p.L239H

c.716T>A

1 paper

NM_001321103.2

p.R232K

c.695G>A

1 paper

NM_001321103.2

p.I246L

c.736A>T

1 paper

NM_001321103.2

p.R224*

c.670A>T

1 paper

NM_001321103.2

p.D210N

c.628G>A

1 paper

NM_001321103.2

p.A205V

c.614C>T

1 paper

NM_001321103.2

p.D201N

c.601G>A

1 paper

NM_001321103.2

p.D197N

c.589G>A

1 paper

NM_001321103.2

p.E261A

c.782A>C

1 paper

NM_001321103.2

p.E261D

c.783A>T

1 paper

NM_001321103.2

p.E261D

c.783A>C

1 paper

NM_001321103.2

p.R271*

c.811C>T