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

2 papers

NM_001174089.2

p.T817delFs

c.2450delG

Surrounding Variants

3 papers

NM_032034.4

p.G834S

c.2500G>A

NM_001174089.2

p.G818S

c.2452G>A

4 papers

NM_032034.4

p.T833M

c.2498C>T

NM_001174089.2

p.T817M

c.2450C>T

4 papers

NM_001174089.2

p.V808_G818delFs

c.2423_2454del32

1 paper

NM_001174089.2

p.Q820*

c.2458C>T

1 paper

NM_001174089.2

p.V821insFs

c.2461_2462insT

1 paper

NM_001174089.2

p.L824P

c.2471T>C

2 papers

NM_001174089.2

p.Q810P

c.2429A>C

1 paper

NM_001174090.2

p.L869L

c.2605C>T

1 paper

NM_001174089.2

p.R807Fs

c.2420delinsGGFs

4 papers

NM_032034.4

p.L843P

c.2528T>C

NM_001174089.2

p.L827P

c.2480T>C

3 papers

NM_032034.4

p.V824M

c.2470G>A

NM_001174089.2

p.V808M

c.2422G>A

2 papers

NM_032034.4

p.L843del1

c.2527_2529delCAG

NM_001174089.2

p.L827del1

c.2527_2528delCAG