Varaico: Literature-Extracted Genetic Variants

SLC4A3

176 papers

RefSeq Summary

The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016].

Pfam Domains

Band_3_cytoaa 319–618UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 680–865UCSCHCO3- transporter integral membrane domain

HCO3_cotranspaa 865–1213UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 3

HGNC Alias Symbols

AE3; SLC2C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005070.4

p.K109R

c.326A>G

Surrounding Variants

1 paper

NM_005070.4

p.R110R

c.330G>A

1 paper

NM_005070.4

p.H105H

c.315C>T

1 paper

NM_005070.4

p.R104insFs

c.311_312insC

1 paper

NM_005070.4

p.R104W

c.310C>T

1 paper

NM_005070.4

p.R104insFs

c.310_311insC

1 paper

NM_005070.4

p.P119S

c.355C>T

1 paper

NM_005070.4

p.E121K

c.361G>A

1 paper

NM_005070.4

p.P124L

c.371C>T

1 paper

NM_005070.4

p.P125S

c.373C>T

1 paper

NM_005070.4

p.H93R

c.278A>G

1 paper

NM_005070.4

p.P125L

c.374C>T

1 paper

NM_005070.4

p.P90H

c.269C>A