Varaico: Literature-Extracted Genetic Variants

SLC4A2

135 papers

RefSeq Summary

This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced exp...

Pfam Domains

Band_3_cytoaa 321–619UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 680–1221UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 2

HGNC Previous Symbols

EPB3L1; AE2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 155 variants

4 papers

NM_003040.4

p.R107Q

c.320G>A

3 papers

NM_003040.4

p.P102L

c.305C>T

2 papers

NM_003040.4

p.P20L

c.59C>T

2 papers

NM_003040.4

p.G26E

c.77G>A

2 papers

NM_003040.4

p.P62P

c.186A>T

2 papers

NM_003040.4

p.I81T

c.242T>C

2 papers

NM_003040.4

p.R95H

c.284G>A

2 papers

NM_003040.4

p.A166delFs

c.497delC

2 papers

NM_003040.4

p.A186T

c.556G>A

2 papers

NM_003040.4

p.Q400_D409del0

c.1199_1225del27

2 papers

NM_003040.4

p.F438_P439delFs

c.1312_1315del4

2 papers

NM_003040.4

p.A459V

c.1376C>T