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.R410P

c.1229G>C

Surrounding Variants

1 paper

NM_005070.4

p.R410Q

c.1229G>A

1 paper

NM_005070.4

p.E412E

c.1236G>A

1 paper

NM_001326559.2

p.D440Y

c.1318G>T

1 paper

NM_005070.4

p.S416_V417del2

c.1246_1250del6

1 paper

NM_005070.4

p.V399G

c.1196T>G

1 paper

NM_005070.4

p.V399M

c.1195G>A

1 paper

NM_005070.4

p.H397Q

c.1191C>A

1 paper

NM_005070.4

p.L384F

c.1150C>T

2 papers

NM_005070.4

p.D431_S434delFs

c.1291_1300del10

1 paper

NM_005070.4

p.F437S

c.1310T>C

1 paper

NM_005070.4

p.T456S

c.1367C>G

1 paper

NM_005070.4

p.D462_G463insC

c.1384_1388ins3