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

2 papers

NM_005070.4

p.S148P

c.442T>C

Surrounding Variants

1 paper

NM_005070.4

p.E147A

c.440A>C

1 paper

NM_005070.4

p.E149Q

c.445G>C

1 paper

NM_005070.4

p.A150P

c.448G>C

1 paper

NM_005070.4

p.A150fs

c.448_449fs

1 paper

NM_005070.4

p.E145D

c.435A>C

1 paper

NM_005070.4

p.A150A

c.450A>C

1 paper

NM_005070.4

p.P152insFs

c.455dupC

1 paper

NM_005070.4

p.E143A

c.428A>C

1 paper

NM_005070.4

p.E142A

c.425A>C

1 paper

NM_005070.4

p.E154fs

c.460_461fs

4 papers

NM_005070.4

p.H157insFs

c.469dupC

6 papers

NM_005070.4

p.H157fs

c.469_470fs