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

Selected Variant

1 paper

NM_003040.4

p.E130*

c.388G>T

Surrounding Variants

1 paper

NM_003040.4

p.E130K

c.388G>A

1 paper

NM_003040.4

p.E122V

c.365A>T

1 paper

NM_003040.4

p.T118I

c.353C>T

1 paper

NM_003040.4

p.Q142P

c.425A>C

1 paper

NM_003040.4

p.P143A

c.427C>G

1 paper

NM_003040.4

p.P145A

c.433C>G

1 paper

NM_003040.4

p.P114L

c.341C>T

1 paper

NM_003040.4

p.P149A

c.445C>G

1 paper

NM_003040.4

p.P110R

c.329C>G

1 paper

NM_003040.4

p.R109L

c.326G>T

1 paper

NM_003040.4

p.S151P

c.451T>C

4 papers

NM_003040.4

p.R107Q

c.320G>A