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.C214Y

c.641G>A

Surrounding Variants

4 papers

NM_001174089.2

p.V213V

c.639G>A

1 paper

NM_032034.4

p.V229M

c.685G>A

3 papers

NM_032034.4

p.S232N

c.695G>A

NM_001174089.2

p.S216N

c.647G>A

3 papers

NM_032034.4

p.R233C

c.697C>T

NM_001174089.2

p.R217C

c.649C>T

2 papers

NM_032034.4

p.R233L

c.698G>T

NM_001174089.2

p.R217L

c.650G>T

1 paper

NM_001174089.2

p.L218delFs

c.652_653delAG

6 papers

NM_001174089.2

p.Q209*

c.625C>T

1 paper

NM_001174089.2

p.C214_V219insFs

c.640_656dup17

1 paper

NM_001174089.2

p.C214_V219delFs

c.640_656del17

1 paper

NM_001174089.2

p.L208delFs

c.623delA

1 paper

NM_001174089.2

p.K206_A207delFs

c.618_619delCC

3 papers

NM_032034.4

p.W240S

c.719G>C

NM_001174089.2

p.W224S

c.671G>C