Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.V575M

SLC4A11

168 papers

RefSeq Summary

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been a...

Pfam Domains

HCO3_cotranspaa 324–393UCSCHCO3- transporter integral membrane domain
HCO3_cotranspaa 324–874UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 11

HGNC Previous Symbols

CHED2; CDPD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_032034.4
p.V575M
c.1723G>A
NM_001174089.2
p.V559M
c.1675G>A
Surrounding Variants
2 papers
NM_001174089.2
p.G554_S561del8
c.1660_1682del24
2 papers
NM_032034.4
p.L579del1
c.1735_1737delGAG
NM_001174089.2
p.L563del1
c.1735_1736delGAG
2 papers
NM_032034.4
p.H568_S569delFs
c.1704_1705delAG
NM_001174089.2
p.S553delFs
c.1657_1658delGA
1 paper
NM_001174089.2
p.S553fs
c.1657_1658fs
1 paper
NM_001174089.2
p.M565T
c.1694T>C
1 paper
NM_001174089.2
p.M565K
c.1694T>A
3 papers
NM_032034.4
p.G583D
c.1748G>A
NM_001174089.2
p.G567D
c.1700G>A
3 papers
NM_032034.4
p.T584K
c.1751C>A
NM_001174089.2
p.T568K
c.1703C>A
3 papers
NM_032034.4
p.S565L
c.1694C>T
NM_001174089.2
p.S549L
c.1646C>T
1 paper
NM_001174089.2
p.T545_P548del0
c.1633_1644del12
2 papers
NM_001174089.2
p.L569R
c.1706T>G
1 paper
NM_001174089.2
p.L569H
c.1706T>A
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