Varaico: Literature-Extracted Genetic Variants

Gene:ISL1
Variant:p.C45G

ISL1

168 papers

RefSeq Summary

This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in...

Pfam Domains

LIMaa 17–75UCSCLIM domain
LIMaa 79–135UCSCLIM domain
Homeodomainaa 182–238UCSCHomeodomain

Gene Aliases

HGNC Name

ISL LIM homeobox 1

HGNC Alias Symbols

Isl-1; ISLET1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002202.3
p.C45G
c.133T>G
Surrounding Variants
1 paper
NM_002202.3
p.C45_A46Fs
c.134_136delinsCCFs
2 papers
NM_002202.3
p.A46G
c.137C>G
1 paper
NM_002202.3
p.A41T
c.121G>A
1 paper
NM_002202.3
p.A40E
c.119C>A
1 paper
NM_002202.3
p.Q50K
c.148C>A
2 papers
NM_002202.3
p.Q50*
c.148C>T
1 paper
NM_002202.3
p.H39Y
c.115C>T
1 paper
NM_002202.3
p.W38*
c.114G>A
1 paper
NM_002202.3
p.W38*
c.113G>A
1 paper
NM_002202.3
p.W38_C42delFs
c.112_124del13
1 paper
NM_002202.3
p.E54*
c.160G>T
1 paper
NM_002202.3
p.L36fs
c.106_107fs
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