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.R286K

c.857G>A

Surrounding Variants

1 paper

NM_001174089.2

p.R286delFs

c.856delT

1 paper

NM_001174090.2

p.R329*

c.985A>T

1 paper

NM_001174089.2

p.Q287_L288Fs

c.859_862delinsCCTFs

2 papers

NM_032034.4

p.E293_A297del0

c.878_889del12

NM_001174089.2

p.E277_A281del0

c.830_841del12

5 papers

NM_001174089.2

p.S293_V297del0

c.878_889del12

1 paper

NM_001174089.2

p.A298V

c.893C>T

1 paper

NM_001174089.2

p.R266_T272del0

c.797_814del18

2 papers

NM_032034.4

p.E287_T288Fs

c.859_862delinsCCTFs

NM_001174089.2

p.E271_T272Fs

c.811_814delinsCCTFs

1 paper

NM_001174089.2

p.E271fs

c.811_812fs

1 paper

NM_001174090.2

p.K345*

c.1033A>T

1 paper

NM_001174089.2

p.K302M

c.905A>T

2 papers

NM_001174089.2

p.K302R

c.905A>G