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.Q853*

c.2557C>T

NM_001317026.3

p.Q817*

c.2449C>T

Surrounding Variants

1 paper

NM_001013838.3

p.D857A

c.2570A>C

3 papers

NM_001317026.3

p.D821V

c.2462A>T

NM_001013838.3

p.D857V

c.2570A>T

1 paper

NM_001013838.3

p.A858T

c.2572G>A

1 paper

NM_001013838.3

p.A858V

c.2573C>T

1 paper

NM_001013838.3

p.L846fs

c.2536_2537fs

5 papers

NM_001013838.3

p.L846fs

c.2536_2537fs

NM_001317026.3

p.L810fs

c.2428_2429fs

1 paper

NM_001013838.3

p.G845D

c.2534G>A

2 papers

NM_001013838.3

p.L846_L850delFs

c.2536_2548del13

1 paper

NM_001317026.3

p.Q792*

c.2374C>T

2 papers

NM_001013838.3

p.T818I

c.2453C>T

2 papers

NM_001317026.3

p.R830Q

c.2489G>A

NM_001013838.3

p.R866Q

c.2597G>A

3 papers

NM_001317026.3

p.R853W

c.2557C>T

NM_001013838.3

p.R889W

c.2665C>T