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.L661insFs

c.1982_1983insC

Surrounding Variants

1 paper

NM_005070.4

p.L661insFs

c.1981_1982insC

2 papers

NM_005070.4

p.G664R

c.1990G>A

2 papers

NM_005070.4

p.G664R

c.1990G>C

1 paper

NM_005070.4

p.G679S

c.2035G>A

1 paper

NM_005070.4

p.R687R

c.2061G>A

1 paper

NM_005070.4

p.D688V

c.2063A>T

1 paper

NM_005070.4

p.R690K

c.2069G>A

1 paper

NM_005070.4

p.R691C

c.2071C>T

1 paper

NM_005070.4

p.E658K

c.1972G>A

1 paper

NM_005070.4

p.T725P

c.2173A>C

1 paper

NM_005070.4

p.F726fs

c.2176_2177fs

1 paper

NM_005070.4

p.G727insFs

c.2179dupG