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

6 papers

NM_001013838.3

p.L639H

c.1916T>A

NM_001317026.3

p.L603H

c.1808T>A

Surrounding Variants

3 papers

NM_001013838.3

p.D623E

c.1869C>A

NM_001317026.3

p.D587E

c.1761C>A

3 papers

NM_001013838.3

p.D623E

c.1869C>G

NM_001317026.3

p.D587E

c.1761C>G

2 papers

NM_001013838.3

p.I616V

c.1846A>G

1 paper

NM_001013838.3

p.D615Y

c.1843G>T

1 paper

NM_001013838.3

p.T612S

c.1835C>G

1 paper

NM_001013838.3

p.P609H

c.1826C>A

1 paper

NM_001013838.3

p.N608K

c.1824T>A

1 paper

NM_001013838.3

p.N608K

c.1824T>G

1 paper

NM_001013838.3

p.Q585R

c.1754A>G

2 papers

NM_001013838.3

p.R640Splc

c.1920-7G>A

NM_001317026.3

p.R604Splc

c.1812-7G>A

1 paper

NM_001317026.3

p.S605fs

c.1813_1814fs

1 paper

NM_001013838.3

p.V642fs

c.1924_1925fs