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.T892S

c.2674A>T

Surrounding Variants

1 paper

NM_005070.4

p.P884fs

c.2650_2651fs

1 paper

NM_005070.4

p.I906L

c.2716A>T

1 paper

NM_005070.4

p.R911C

c.2731C>T

1 paper

NM_005070.4

p.R914K

c.2741G>A

1 paper

NM_005070.4

p.A868V

c.2603C>T

2 papers

NM_005070.4

p.D867_A868insFs

c.2601_2602insC

2 papers

NM_005070.4

p.D867A

c.2600A>C

3 papers

NM_005070.4

p.D867H

c.2599G>C

1 paper

NM_005070.4

p.D867delins

c.2599_2600delinsCC

1 paper

NM_005070.4

p.E863A

c.2588A>C

1 paper

NM_005070.4

p.Y856delFs

c.2568delC

1 paper

NM_005070.4

p.P854L

c.2561C>T