Varaico: Literature-Extracted Genetic Variants

SLC4A4

200 papers

RefSeq Summary

This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal ...

Pfam Domains

Band_3_cytoaa 106–387UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 441–1007UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 4

HGNC Alias Symbols

NBC1; HNBC1; NBC2; pNBC; hhNMC; kNBC1; KNBC; NBCe1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_003759.4

p.L522P

c.1565T>C

NM_001098484.3

p.L566P

c.1697T>C

Surrounding Variants

4 papers

NM_003759.4

p.W516*

c.1548G>A

4 papers

NM_003759.4

p.W516*

c.1547G>A

10 papers

NM_001098484.3

p.R554H

c.1661G>A

NM_003759.4

p.R510H

c.1529G>A

1 paper

NM_001098484.3

p.R582C

c.1744C>T

1 paper

NM_003759.4

p.D555N

c.1663G>A

2 papers

NM_003759.4

p.D555E

c.1665T>A

2 papers

NM_003759.4

p.D555E

c.1665T>G

4 papers

NM_001098484.3

p.K602R

c.1805A>G

NM_003759.4

p.K558R

c.1673A>G

1 paper

NM_001098484.3

p.Y611C

c.1832A>G

2 papers

NM_003759.4

p.K500Splc

c.1499+1G>A

1 paper

NM_001098484.3

p.L538F

c.1612C>T

2 papers

NM_003759.4

p.E492Q

c.1474G>C