Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A5
Variant:p.K811T

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.K811T
c.2432A>C
Surrounding Variants
1 paper
NM_133478.3
p.H805R
c.2414A>G
1 paper
NM_133478.3
p.D780N
c.2338G>A
1 paper
NM_133478.3
p.T813T
c.2439G>A
1 paper
NM_133478.3
p.R814W
c.2440C>T
1 paper
NM_133478.3
p.R814Q
c.2441G>A
1 paper
NM_133478.3
p.P823L
c.2468C>T
1 paper
NM_133478.3
p.W829G
c.2485T>G
2 papers
NM_133478.3
p.W830*
c.2489G>A
2 papers
NM_133478.3
p.W830*
c.2490G>A
1 paper
NM_133478.3
p.A839delFs
c.2515delC
1 paper
NM_133478.3
p.A839fs
c.2515_2516fs
2 papers
NM_133478.3
p.E861K
c.2581G>A
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