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

4 papers

NM_201574.3

p.R370H

c.1109G>A

Surrounding Variants

1 paper

NM_005070.4

p.K346T

c.1037A>C

1 paper

NM_005070.4

p.F347S

c.1040T>C

1 paper

NM_005070.4

p.E335insFs

c.1004_1005insC

1 paper

NM_005070.4

p.R357C

c.1069C>T

1 paper

NM_005070.4

p.L328Q

c.983T>A

1 paper

NM_201574.3

p.G386V

c.1157G>T

1 paper

NM_005070.4

p.H362insFs

c.1085_1086insC

1 paper

NM_005070.4

p.R369C

c.1105C>T

1 paper

NM_005070.4

p.S370R

c.1108A>C

3 papers

NM_005070.4

p.S370N

c.1109G>A

1 paper

NM_005070.4

p.S370R

c.1110C>A

1 paper

NM_005070.4

p.S370R

c.1110C>G