Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.E5800*

AHNAK

368 papers

RefSeq Summary

The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as b...

Gene Aliases

HGNC Name

AHNAK nucleoprotein

HGNC Alias Symbols

MGC5395; AHNAK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001620.3
p.E5800*
c.17398G>T
Surrounding Variants
1 paper
NM_001620.3
p.T5796M
c.17387C>T
1 paper
NM_001620.3
p.S5790A
c.17368T>G
1 paper
NM_001620.3
p.E5788delFs
c.17363_17364delCT
1 paper
NM_001620.3
p.E5788fs
c.17362_17363fs
1 paper
NM_001620.3
p.K5814delFs
c.17442delT
1 paper
NM_001620.3
p.H5817delFs
c.17451delG
1 paper
NM_001620.3
p.R5779H
c.17336G>A
1 paper
NM_001620.3
p.R5779C
c.17335C>T
1 paper
NM_001620.3
p.G5826fs
c.17476_17477fs
1 paper
NM_001620.3
p.G5827fs
c.17479_17480fs
2 papers
NM_001620.3
p.G5826_G5829delFs
c.17478_17485del8
1 paper
NM_001620.3
p.P5764L
c.17291C>T
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