Varaico: Literature-Extracted Genetic Variants

SYNE1

922 papers

RefSeq Summary

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have be...

Pfam Domains

CHaa 27–135UCSCCalponin homology (CH) domain

CHaa 178–284UCSCCalponin homology (CH) domain

Spectrin_SYNE1aa 515–702UCSCNesprin-1, spectrin repeats

Spectrin_SYNE1_2aa 2954–3064UCSCNesprin-1, spectrin repeats

Spectrinaa 3174–3277UCSCSpectrin repeat

Gene Aliases

HGNC Name

spectrin repeat containing nuclear envelope protein 1

HGNC Previous Symbol

C6orf98

Papers

RefSeq ID

Protein change

DNA change

1–12 of 2550 variants

9 papers

NM_182961.4

p.E4060D

c.12180G>T

9 papers

NM_182961.4

p.R7772Q

c.23315G>A

8 papers

NM_182961.4

p.P1578S

c.4732C>T

7 papers

NM_182961.4

p.L858R

c.2573T>G

7 papers

NM_182961.4

p.R1388W

c.4162C>T

7 papers

NM_182961.4

p.E4060D

c.12180G>C

7 papers

NM_182961.4

p.L4944M

c.14830C>A

7 papers

NM_182961.4

p.L5015M

c.15043T>A

7 papers

NM_182961.4

p.W5556*

c.16667G>A

7 papers

NM_182961.4

p.R7050*

c.21148C>T

7 papers

NM_182961.4

p.R8272Q

c.24815G>A

7 papers

NM_182961.4

p.E8461K

c.25381G>A