Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.L1151L

IRS1

686 papers

RefSeq Summary

This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided...

Pfam Domains

PHaa 8–115UCSCPH domain
IRSaa 166–261UCSCPTB domain (IRS-1 type)

Gene Aliases

HGNC Name

insulin receptor substrate 1

HGNC Alias Symbol

HIRS-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005544.3
p.L1151L
c.3453G>T
Surrounding Variants
1 paper
NM_005544.3
p.L1151M
c.3451C>A
1 paper
NM_005544.3
p.W1150*
c.3450G>A
1 paper
NM_005544.3
p.W1150*
c.3449G>A
1 paper
NM_005544.3
p.S1145S
c.3435C>T
3 papers
NM_005544.3
p.G1158E
c.3473G>A
2 papers
NM_005544.3
p.R1140H
c.3419G>A
1 paper
NM_005544.3
p.P1163P
c.3489A>C
1 paper
NM_005544.3
p.K1139T
c.3416A>C
2 papers
NM_005544.3
p.D1137N
c.3409G>A
1 paper
NM_005544.3
p.E1136K
c.3406G>A
1 paper
NM_005544.3
p.G1172G
c.3516T>G
3 papers
NM_005544.3
p.G1130S
c.3388G>A
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