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.A776delFs

c.2328delC

Surrounding Variants

1 paper

NM_001174089.2

p.S779P

c.2335T>C

1 paper

NM_001174090.2

p.D824N

c.2470G>A

1 paper

NM_001174089.2

p.D781_G782del1

c.2342_2344delCAT

2 papers

NM_032034.4

p.Q800*

c.2398C>T

NM_001174089.2

p.Q784*

c.2350C>T

1 paper

NM_001174089.2

p.L785I

c.2353C>A

1 paper

NM_001174089.2

p.V786L

c.2356G>C

1 paper

NM_001174089.2

p.Q787*

c.2359C>T

6 papers

NM_032034.4

p.R804H

c.2411G>A

NM_001174089.2

p.R788H

c.2363G>A

1 paper

NM_001174089.2

p.V789insFs

c.2366dupT

1 paper

NM_032034.4

p.V805fs

c.2413_2414fs

1 paper

NM_001174089.2

p.A790fs

c.2368_2369fs

1 paper

NM_001174089.2

p.L791fs

c.2371_2372fs