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

1–12 of 99 variants

2 papers

NM_001321103.2

p.M1T

c.2T>C

2 papers

NM_001321103.2

p.G5E

c.14G>A

2 papers

NM_001321103.2

p.I237I

c.711T>A

2 papers

NM_001321103.2

p.L239H

c.716T>A

2 papers

NM_001321103.2

p.S322G

c.964A>G

2 papers

NM_001321103.2

p.Q669insFs

c.2007dupA

1 paper

NM_001321103.2

p.G5R

c.13G>C

1 paper

NM_001321103.2

p.R16P

c.47G>C

1 paper

NM_001321103.2

p.P22L

c.65C>T

1 paper

NM_001321103.2

p.T39A

c.115A>G

1 paper

NM_001321103.2

p.F41L

c.123T>A

1 paper

NM_001321103.2

p.K43R

c.128A>G