Varaico: Literature-Extracted Genetic Variants

CARMIL2

152 papers

RefSeq Summary

This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein an...

Pfam Domains

Carm_PHaa 34–120UCSCCarmil pleckstrin homology domain

LRR_6aa 607–630UCSCLeucine Rich repeat

CARMIL_Caa 819–1112UCSCCARMIL C-terminus

Gene Aliases

HGNC Name

capping protein regulator and myosin 1 linker 2

HGNC Previous Symbol

RLTPR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001013838.3

p.G747E

c.2240G>A

Surrounding Variants

1 paper

NM_001013838.3

p.G745D

c.2234G>A

2 papers

NM_001013838.3

p.D761V

c.2282A>T

1 paper

NM_001013838.3

p.S771R

c.2311A>C

1 paper

NM_001013838.3

p.S771R

c.2313C>A

1 paper

NM_001013838.3

p.S771R

c.2313C>G

1 paper

NM_001013838.3

p.S771_I772Splc

c.2313+1G>A

1 paper

NM_001013838.3

p.E802K

c.2404G>A

2 papers

NM_001013838.3

p.T818I

c.2453C>T

1 paper

NM_001317026.3

p.Q792*

c.2374C>T

2 papers

NM_001013838.3

p.L846_L850delFs

c.2536_2548del13

1 paper

NM_001013838.3

p.G845D

c.2534G>A

1 paper

NM_001013838.3

p.L846fs

c.2536_2537fs