Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.L7P

GJA3

378 papers

RefSeq Summary

The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan ...

Pfam Domains

Connexinaa 3–227UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein alpha 3

HGNC Previous Symbol

CZP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_021954.4
p.L7P
c.20T>C
Surrounding Variants
1 paper
NM_021954.4
p.L7Q
c.20T>A
3 papers
NM_021954.4
p.L7V
c.19C>G
2 papers
NM_021954.4
p.G8E
c.23G>A
1 paper
NM_021954.4
p.S5delFs
c.15delG
1 paper
NM_021954.4
p.S5R
c.15C>G
1 paper
NM_021954.4
p.S5R
c.15C>A
1 paper
NM_021954.4
p.R9I
c.26G>T
1 paper
NM_021954.4
p.R9K
c.26G>A
1 paper
NM_021954.4
p.S5N
c.14G>A
1 paper
NM_021954.4
p.S5R
c.13A>C
1 paper
NM_021954.4
p.L10I
c.28C>A
2 papers
NM_021954.4
p.W4R
c.10T>C
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