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

1–12 of 195 variants

6 papers

NM_005070.4

p.H157fs

c.469_470fs

4 papers

NM_005070.4

p.H157insFs

c.469dupC

4 papers

NM_005070.4

p.H157delFs

c.470delA

3 papers

NM_005070.4

p.T41A

c.121A>G

3 papers

NM_005070.4

p.H157P

c.470A>C

3 papers

NM_201574.3

p.R370H

c.1109G>A

3 papers

NM_005070.4

p.S370N

c.1109G>A

3 papers

NM_005070.4

p.D867H

c.2599G>C

2 papers

NM_005070.4

p.T41I

c.122C>T

2 papers

NM_005070.4

p.D49V

c.146A>T

2 papers

NM_005070.4

p.S148P

c.442T>C

2 papers

NM_005070.4

p.D431_S434delFs

c.1291_1300del10