Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.D1607fs

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.D1607fs
c.4819_4820fs
Surrounding Variants
1 paper
NM_001620.3
p.D1607insFs
c.4819_4820ins31
1 paper
NM_001620.3
p.D1607H
c.4819G>C
1 paper
NM_001620.3
p.L1608F
c.4824G>T
1 paper
NM_001620.3
p.L1608F
c.4824G>C
1 paper
NM_001620.3
p.K1603E
c.4807A>G
2 papers
NM_001620.3
p.P1602S
c.4804C>T
1 paper
NM_001620.3
p.D1596N
c.4786G>A
1 paper
NM_001620.3
p.M1620V
c.4858A>G
1 paper
NM_001620.3
p.P1632T
c.4894C>A
1 paper
NM_001620.3
p.E1633K
c.4897G>A
1 paper
NM_001620.3
p.G1634R
c.4900G>C
1 paper
NM_001620.3
p.G1634R
c.4900G>A
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