Varaico: Literature-Extracted Genetic Variants

SLC4A1

774 papers

RefSeq Summary

The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carb...

Pfam Domains

Band_3_cytoaa 55–328UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 377–564UCSCHCO3- transporter integral membrane domain

HCO3_cotranspaa 554–891UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 1

HGNC Previous Symbols

EPB3; AE1; DI; WD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

35 papers

NM_000342.4

p.R760Q

c.2279G>A

Surrounding Variants

1 paper

NM_000342.4

p.R760P

c.2279G>C

10 papers

NM_000342.4

p.R760W

c.2278C>T

13 papers

NM_000342.4

p.Q759H

c.2277G>T

13 papers

NM_000342.4

p.Q759H

c.2277G>C

1 paper

NM_000342.4

p.I761F

c.2281A>T

2 papers

NM_000342.4

p.S762C

c.2284A>T

10 papers

NM_000342.4

p.S762R

c.2284A>C

1 paper

NM_000342.4

p.S762N

c.2285G>A

11 papers

NM_000342.4

p.S762R

c.2286T>G

10 papers

NM_000342.4

p.S762R

c.2286T>A

14 papers

NM_000342.4

p.E758K

c.2272G>A

3 papers

NM_000342.4

p.G763R

c.2287G>C