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.K102delFs

c.306delC

Surrounding Variants

5 papers

NM_032034.4

p.K118_N119delFs

c.353_356del4

NM_001174089.2

p.K102_N103delFs

c.305_308del4

2 papers

NM_032034.4

p.K118fs

c.352_353fs

NM_001174089.2

p.K102fs

c.304_305fs

2 papers

NM_001174089.2

p.L99_K100del2

c.295_299del6

11 papers

NM_001174089.2

p.R109H

c.326G>A

NM_032034.4

p.R125H

c.374G>A

6 papers

NM_001174089.2

p.R112C

c.334C>T

2 papers

NM_032034.4

p.R128G

c.382C>G

NM_001174089.2

p.R112G

c.334C>G

1 paper

NM_001174089.2

p.D113N

c.337G>A

1 paper

NM_001174089.2

p.G116S

c.346G>A

1 paper

NM_001174089.2

p.G116G

c.348C>G

1 paper

NM_001174089.2

p.F117L

c.349T>C

1 paper

NM_001174089.2

p.F117L

c.351C>G

1 paper

NM_001174089.2

p.F117L

c.351C>A