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.F697fs

c.2089_2090fs

Surrounding Variants

1 paper

NM_032034.4

p.P716A

c.2146C>G

1 paper

NM_001174089.2

p.L694fs

c.2080_2081fs

1 paper

NM_001174089.2

p.G693delFs

c.2079delC

6 papers

NM_032034.4

p.G709E

c.2126G>A

NM_001174089.2

p.G693E

c.2078G>A

1 paper

NM_001174089.2

p.I690N

c.2069T>A

1 paper

NM_001174089.2

p.L687P

c.2060T>C

1 paper

NM_001174089.2

p.H708D

c.2122C>G

2 papers

NM_001174089.2

p.S709delFs

c.2127delG

1 paper

NM_001174090.2

p.H755Y

c.2263C>T

2 papers

NM_032034.4

p.R730*

c.2188C>T

NM_001174089.2

p.R714*

c.2140C>T

1 paper

NM_001174089.2

p.L716insFs

c.2147dupT

1 paper

NM_032034.4

p.L732fs

c.2194_2195fs