Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_001174089.2

p.I607S

c.1820T>G

Surrounding Variants

1 paper

NM_001174089.2

p.F604_S605del2

c.1810_1814del6

1 paper

NM_001174089.2

p.G611G

c.1833C>T

5 papers

NM_032034.4

p.E632*

c.1894G>T

NM_001174089.2

p.E616*

c.1846G>T

1 paper

NM_001174090.2

p.E659A

c.1976A>C

1 paper

NM_032034.4

p.C611C

c.1833C>T

1 paper

NM_001174089.2

p.C595R

c.1783T>C

1 paper

NM_001174089.2

p.R589insFs

c.1766dupG

10 papers

NM_001174089.2

p.R589*

c.1765C>T

NM_032034.4

p.R605*

c.1813C>T

1 paper

NM_001174089.2

p.Y583*

c.1749C>A

2 papers

NM_032034.4

p.M633Splc

c.1898-2A>C

NM_001174089.2

p.M617Splc

c.1850-2A>C

1 paper

NM_032034.4

p.M633Splc

c.1898-1G>A

1 paper

NM_032034.4

p.M633fs

c.1897_1898fs