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.F71delFs

c.213delT

Surrounding Variants

1 paper

NM_005070.4

p.E72K

c.214G>A

1 paper

NM_005070.4

p.E68K

c.202G>A

1 paper

NM_005070.4

p.K61R

c.182A>G

1 paper

NM_005070.4

p.E60delFs

c.180delG

1 paper

NM_005070.4

p.P54L

c.161C>T

2 papers

NM_005070.4

p.D49V

c.146A>T

1 paper

NM_005070.4

p.V44L

c.130G>C

1 paper

NM_005070.4

p.V44L

c.130G>T

2 papers

NM_005070.4

p.T41I

c.122C>T

3 papers

NM_005070.4

p.T41A

c.121A>G

1 paper

NM_005070.4

p.D36A

c.107A>C

1 paper

NM_005070.4

p.E34K

c.100G>A