Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A5
Variant:p.A966V

SLC4A5

103 papers

RefSeq Summary

This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH reg...

Pfam Domains

Band_3_cytoaa 111–407UCSCBand 3 cytoplasmic domain
HCO3_cotranspaa 493–1074UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 5

HGNC Alias Symbol

NBC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133478.3
p.A966V
c.2897C>T
Surrounding Variants
1 paper
NM_133478.3
p.A966T
c.2896G>A
1 paper
NM_133478.3
p.Y957Y
c.2871C>T
1 paper
NM_133478.3
p.P988L
c.2963C>T
1 paper
NM_133478.3
p.P997S
c.2989C>T
1 paper
NM_133478.3
p.L1006V
c.3016C>G
1 paper
NM_133478.3
p.L1010F
c.3028C>T
1 paper
NM_133478.3
p.R1038Q
c.3113G>A
1 paper
NM_133478.3
p.D1054N
c.3160G>A
1 paper
NM_133478.3
p.K1063fs
c.3187_3188fs
1 paper
NM_133478.3
p.E1082K
c.3244G>A
1 paper
NM_133478.3
p.T938M
c.2813C>T
1 paper
NM_133478.3
p.T930T
c.2790C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."